Elizabeth pajor free public records michigan

Mizak, Ladd B. Morrissey, Donald Nettie, Donna A. Novrtsky, Stanley C, Jr. Fishman, Theodore Flesher, John S. Gamham, Frederick G Sr. Garver, Jay E. Rice, Mary Sammut, Emmanuel F.

Aorll i Aoe U Beloved husband of Helml. Deer father of Harry A. I Sua Fldler Jr. Dorothy Jacob-ton and Mrs. Carol Ralph uoocn. Also survives oy iv grano' chlldran. Mamorlal sarvlcas Sunday p. Eight Mile, Far-mlngton Hills. Arrangements by i nifK-RK, runerai noma. April 6. Age Lovlno husbnd of Marv Lou. Dear orandta- ther of Murlelle and Madeline Smith. DeLaunev was an Administrator at Oakland University. Mass of the Resurrection will be Monday 10 a. John r-isner inapei, jom weiTon divo.. Auburn Hills. The family will receive I r ends Saturday M D. Rosary Sunday 7 p.

Mr, DeLaunev will lie In state at the church on Monday at 9: 15 a. Interment van Hooten Jones cemetery. Me morials to the Michigan Cancer rounqaiion. Of Washlno- ton Two. Aorll 6. Aae 90 Husband of the late Charlotte Garnham, who preceded him in aeain on reoruary is, iree. Garn ham. Michael Ine and Edward E. Brother of Anne Robertson. Also survived by five grandchildren and tour great grandchildren. Funeral services for Mr. Garnham, and his late; wire tnarione, win oe Monday, Aorll Beloved husband of Kathleen. Loving father of eight.

Grandfather of ten. Services to be r ranged in K anna polls, N. April 5, Husband ot ratncia. Jamas Jr.. Cassan dra, Garrard and Luv-Ly. Son of Mr. Mlse end Ruby Evans. Brother ot Maple E. Sundey beginning at 11 a. Interment Mt. Grandfa ther of Allison Birndorf end Taylor Vecchlonl. Brother of Sidney umnevj locko ana ioiaie ioar-ney Hyman. Also survived by Scott Chubb. April 1. Beloved husband of Eva.

Loving father of David. Also survived by two nieces and one nephew. Visitation Saturday i. Pravers Monday a m at Charles R. Stoe Funeral Heme. Mass 11 a. Immaculate Heart of Mary. Inter- i ment Holy Sepulchre. Age It April e. Beloved husband of Irene. Father of Man- dy, and father-in-law of Allen Wolf. Grandfather of Rlvka and Daniel. Visitation on April 9 at nennattv-aaanaii punerai nama. Main m. Services Saturday 9 a. Daar tittar eif I m Gaines. For Informa tion call Deft man Funeral 6lrec- iieneiu-3s-4w.

Brother of Joseph Vera Gross. Uncle ot Michael, Marilyn and Vlckl. Visitation Sun. Employed by Detroit Edison for 30 yrs. Retired In and was lifetime member of Royal Oak mapiar wit tn ine uav. Grandfather of Alexandra Hopkins. Dear oroiner ot Deny tuoraon; pas-sett. Gloria Euoene Dunn. Beloved friend or Sharon Banns ana tamt- and Sunday p. Funeral service Monday 11 a.

Haley Funeral Directors. Lodge X-Way Service Dr. South- field. Brother-in-law of Goldle Kino. Also survived by many loving nrvcm ana nunw. Deerest sitter of Ellmelech and Vllmoush Naftalv. Daaratt arand mother of Dr. Services were neio Friday at Adat snaiom Memorial Park. April a, of Haiel Park. Beloved husband of Leona. Father ot Beverley. Stepmother Prise I lie. Grandfather of Rose. Sherae and Rarhel.

Great grandfather of Joseph and Brandon. Visitation at Sterling Heights chapel of the Frank J. Cakaterra Funeral Heme Inc. Age el. Beloved husband of Maraa- ret. Dear father of Christine teve mapmen. Funeral services from Mciaoe runerei nemo, jr? Visitation Sundav D. In lieu of flowers contri butions mav Be made in mi memory to capuchin soup Kitchen, Mt. Elliott Ave. Michigan, Northland Dr. Also survived by brothers William, Otto and cnaries. Funeral services Monday at the Arthur J.

Van Lor- berghe Funeral Heme, Harper. Clair Shores betw. Doir brothar of Vlllam Mliak. Also turvivao py tavarai niacas ano nephaws and by his frland and business partner David Marl-lynn Brown and their chlldran anawn, mniiopner ano irecy. Genetic and genomic selection for increased resistance to disease offers substantial potential but requires collection of additional phenotypic data.

There is every expectation that changes in the dairy industry will be further accentuated and additional novel technologies and different management practices will be adopted in the future. We use cookies to help provide and enhance our service and tailor content and ads. By continuing you agree to the use of cookies. Download PDF Download. Author links open overlay panel H. Roy S. Under an Elsevier user license. Abstract The dairy industry in the developed world has undergone profound changes over recent decades.

Moreover, several results suggest that gene activity is closely associated with the radial positioning of chromosomes throughout the spermatogenesis process. In all the stages analyzed, the interior of the nucleus presents a higher concentration of genetic material than the expected value.

In addition, chromosomes with more number of genes involved spermatogenesis process or spermiogenesis in round spermatids , show more chromosomal volume in the middle-internal area of the nucleus. Rare genetic diseases are caused by different types of genetic variants, from single nucleotide variants SNVs to large chromosomal rearrangements.

Recent data indicates that whole genome sequencing WGS may be used as a comprehensive test to identify multiple types of pathologic genetic aberrations in a single experiment. We present FindSV, a bioinformatic pipeline for detection of balanced inversions and translocations and unbalanced deletions and duplications structural variants SVs. First, FindSV was tested on validated deletions and duplications with a median size of kb Min: bp, Max: Mb.

All variants were detected. Finally, consecutive samples referred for clinical microarray were also analyzed by WGS. In conclusion, using WGS we detected a wide range of structural variation with high accuracy. Cytogenetically detected chromosomal inversions are generally assumed to be copy number and phenotypically neutral events.

We found that two seemingly recurrent inversions were identical by descent and follow-up analysis using the WGS data confirmed that the unrelated carriers shared both common and more rare haplotypes on the chromosomes with inversions. Background: Oogenesis is an error prone process. As women age the risk of an aneuploid oocyte increases with most errors affecting meiosis I or II. The application of next generation sequencing NGS has allowed us to confirm our earlier finding, from molecular cytogenetic studies, that a significant proportion of apparently meiotic aneuploidy is in fact present in the early embryo, leading to a high risk of oocyte aneuploidy irrespective of age.

It has also provided evidence that genetic factors influence premeiotic oocyte aneuploidy. In total, 68 oocytes from 18 women, average mat age Results : Only four of the women were infertile; most oocytes were donated from cycles of egg freezing for social reasons; two young women were preserving oocytes due to breast cancer treatment.

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Of the 18 patients 6 had oocytes with PM errors; none were infertile. From a total of 27 PM abnormalities, 19 were in five of 10 oocytes from the two cancer patients. In contrast 14 oocytes from one woman for social egg freezing were all euploid. Conclusion: We conclude that the application of NGS has provided accurate information regarding the frequency of aneuploidy that is due to premeiotic errors compared with that caused by errors at MI of oogenesis and that on an individual basis this is influenced by genetic factors.

Shwachman-Diamond syndrome SDS , autosomal recessive bone marrow failure condition, implies a high risk of developing myelodysplastic syndrome and acute myeloid leukaemia. Two clonal chromosome changes are frequent in the bone marrow BM : an isochromosome of the long arm of chromosome 7, i 7 q10 , and an interstitial deletion of the long arm of chromosome 20, del 20 q. Both these clonal anomalies were shown to imply a positive prognostic role, due to the duplication of a mutation with milder effect, in the i 7 q10 , and to the loss of the EIF6 gene, in del 20 q.

Since , we follow-up 97 Italian patients with SDS. We report the expression analysis of bone marrow BM cells of patients with SDS, in relation to the presence of clonal chromosome anomalies: del 20 q five cases , i 7 q10 one case , other anomalies two cases. The study was performed by microarray technique considering the whole transcriptome WT , and three gene subsets, selected as relevant in BM functions.

The results were compared with those of nine patients with SDS without clonal anomalies, and of nine healthy subjects. There is a significant difference between gene expression in BM of SDS patients and healthy subjects, both at level of WT and of the gene sets selected.

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The deletion del 20 q , with the gene EIF6 consistently lost, even in patients with the smallest losses of material, changes the transcription pattern: a low proportion of abnormal cells lead to a pattern similar to SDS patients without acquired anomalies, whereas a high proportion yields to a pattern similar to healthy subjects. Hence, the benign prognostic value of the del 20 q.

The only case of i 7 q10 showed a transcription pattern similar to healthy subjects, paralleling the positive prognostic role of this anomaly as well. FV-PTC is divided into two sub-groups based on two different morphological aspects: infiltrative and encapsulated nodules. Recently, the encapsulated variant has been reclassified as noninvasive follicular thyroid neoplasm with papillary-like nuclear features NIFTP , because it shows features similar to non-malignant lesions. Several studies using quantitative three-dimensional 3D telomere imaging have shown that cancer cells have an altered 3D telomere organization, in contrast to normal cells.

In thyroid cancer, this aspect has not been yet fully investigated. No correlation between molecular alterations and 3D telomere profiles was observed. These data suggest that 3D telomere organization might have diagnostic utility and might help the clinical management of NIFTP, which has a still unclear characterization and an outcome often difficult to predict. Somatically-acquired uniparental disomies aUPDs , also known as copy number neutral loss of heterozygosity cnLOH , are frequent events in solid tumors and have been associated with cancer-related genes.

Here, we aimed at integrating aUPD profiles with whole-exome sequencing mutational data in a tumor-type specific manner. By inferring genome ploidy, we demonstrate that an increased number of aUPD events, both affecting the whole chromosome or segments of it, were present in samples with higher DNA ploidy compared to near-diploid tumors.

The integration of whole-exome sequencing and aUPD provides evidence of biallelic inactivation of tumor suppressor genes and activation of oncogenes in a tumor-type specific manner. Furthermore, while TP53 showed inactivation caused by aUPD at chromosome arm 17p across all tumor types, copy number losses at this genomic position were also frequent. When we studied the presence of aUPD in premalignant lesions of the colorectum, i. Finally, the presence of mosaic UPD was detected at a higher frequency in peripheral blood lymphocytes of patients with colorectal cancer in a case-control study.

In summary, our study defines specific profiles of aUPD in gastrointestinal cancers and provides unequivocal evidence to achieve biallelic inactivation of tumor suppressor genes in cancer and in premalignant lesions. Keywords: uniparental disomy, copy-number alterations, gastrointestinal cancers, colorectal advanced adenomas, single nucleotide variants, ploidy, mosaicism. The subdivision of childhood B-cell precursor acute lymphoblastic leukemia BCP-ALL , based on specific genetic features, such as gene fusions or ploidy and copy number aberrations, provides the basis for treatment stratification and decisions.

The so-called "B-other" group embraces all cases with rare recurrent abnormalities that are hitherto less well-defined. Because they include potential candidates for targeted and personalized therapies, they are currently the main focus of interest. The other one will hopefully identified with whole transcriptome RNA-sequencing, which is currently performed in all cases. Four of them had IKZF1 deletions and all but one are in remission, supporting the notion that ZNF positive cases seem to respond well to current therapies.

Myelodysplastic syndromes MDS are a heterogenous group of clonal hematological malignancies. In patients with MDS, the karyotype of bone-marrow cells at the time of diagnosis is one of the most important prognostic factors. In some MDS cases, acquisition of additional genetic aberrations clonal evolution, CE associated with clinical progression may occur during the disease. The aim of the study was to identify cryptic aberrations in MDS patients and to assess their potential role in clonal evolution.

The analysis of bone-marrow samples with combination of cytogenomic methods at diagnosis and after CE identified chromosomal aberrations. The exposition to exogenous agents can lead to a variety of modifications on DNA, resulting in genome alterations. Two group of buffaloes 20 animals per group, homogeneous for age, sex and feeding , raised in urban group A and rural group B, as control were studied.

The TL values expressed as telomere length relative to a single copy reference gene were 1. No statistical differences were found between the two groups for each test. All four test gave equivalent results and the two different environments do not originate differenced in chromosome stability in buffalo lymphocytes. Chromosome 6 aberrations are rare and parents of children with such an aberration often search the internet and unite in international social media platforms.

Here we present our data on individuals with a terminal 6q deletion collected in a successful collaboration with the Chromosome 6 Facebook group. Phenotype data was collected directly from the individuals or parents via an online multilingual questionnaire. Literature case reports were added to the database using the same questionnaire. We collected data on 30 and 55 individuals with a terminal 6q deletion via our website and literature, respectively.

We analysed the clinical data of the total group of individuals and of the seven subgroups based on the number of deleted haploinsufficiency genes. The overall phenotype includes microcephaly, hypotonia, hypermobility of the joints, balance problems, vision problems, strabismus, feeding problems, sleeping problems, developmental delay, seizures and brain abnormalities, including cerebellum abnormalities, corpus callosum abnormalities and ventriculomegaly. In one third of the individuals short stature, respiratory problems, cardiac and kidney abnormalities were seen.

Subgroup analysis showed that umbilical hernia, spina bifida and hearing impairment were only seen in individuals with a deletion including the PARK2 gene. Developmental delay was also more severe in children with deletions including PARK2. Anal abnormalities were only seen in individuals with deletions including the QKI gene.

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Social media helps in collecting large numbers of detailed genotype-phenotype data on rare chromosome aberrations, enabling a more precise description of the phenotypic spectrum. The application of array-CGH and whole-genome sequencing has led the discovery of many genomic loci with highly variable structure, including copy number variants generated by duplications and deletions, as well as copy number neutral variants created by inversion and transposition.

Nevertheless, characterisation of complex structural variation SV , which is enriched with tandem duplications of low copy repeats and multi-allelic gene families, still represents a challenge to current high-throughput genomic methologies such as array-CGH, quantitative-PCR and next-generation sequencing. Fluorescence in-situ hybridisation FISH , in particular fibre-FISH, remains the current method of choice for characterising such complex genomic structure and variation, since it enables direct visualisation of complex SVs and determination of SV haplotypes in a single hybridisation.

In the past decade, our group have been involved in the validation and characterisation of a variety of complex genomic structures and SVs in human, mouse, zebrafish and pig by multi-colour fibre-FISH, using single-molecule DNA fibres generated by Molecular Combing and extended chromatin and DNA fibres prepared by alkaline lysis.

I will demonstrate that by the judicial use of probes generated by long-range PCR and sequenced genomic clones BACs and fosmids , both simple and complex genomic rearrangements as well as SVs can be resolved using fibre-FISH, and that fibre-FISH remains one of the most accurate methodologies for typing multi-allelic SVs. Whole Genome Sequencing WGS detects pathogenic gene variants, copy number variants, structural chromosome rearrangements and uniparental disomy in a single diagnostic test.

Due to decreasing costs and high diagnostic yields, WGS is destined to become a first-tier test, replacing both arrays and light microscopy. Here, we discuss the status which clinical cytogenetics will have in a world dominated by WGS, and in particular, the minimal knowledge that laboratory specialists of the future should have about clinical cytogenetics. First, laboratory specialists should be aware of the types and frequencies of pathogenic genome variants that remain undetected by WGS.

These include, for example, balanced chromosomal rearrangements with breaks in repetitive DNA sequences, as seen in couples with recurrent abortion, and low level sex chromosome mosaicism in referrals for short stature, premature ovarian failure and male infertility. Also, rare abnormalities such as r 20 epilepsy syndrome would not be detected. This spectrum of missed abnormalities may change as sequencing technology develops, but future laboratory specialists must also be able to recognize any requirement for follow-up studies by light microscopy when analyzing WGS data.

Circulating fetal cells CFC are of immense importance in the research field of non-invasive prenatal diagnosis. We developed and had reported a chip-based microfluidic platform to capture the extremely rare cell population in human circulation.

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The cells recovered can be subjected to subsequent cytogenetic and molecular genomic analyses. Our result demonstrated the nucleated cells we captured are indeed fetal origin, namely, the fnRBC. A prospective, large-scale, randomized study is needed to further prove the applicability of our system in clinical utility of cell-based non-invasive prenatal diagnosis. Our study aim to determine the yield of submicroscopic chromosomal anomalies identified in a large cohort of fetuses in a unique prenatal center at Robert Debre Hospital.

We analyzed the nature of identified variants that allowed us to suggest an adapted support for at risk pregnancies according to fetal abnormality detected on prenatal ultrasound. We retrospectively analyzed results of prenatal BoBs and results of chromosomal microarray CMA for patients referred for prenatal diagnosis between and Fetal indications were classified into 19 groups. BoBs and microarray results were first analyzed regarding the nature of the genomic variant and then regarding the fetal anomalies in each group.

We observed, as expected, that the diagnostic yield and the nature of chromosomal anomalies depend on the indication that motivated prenatal diagnosis. Results by indication allowed us to propose an adapted chromosomal diagnosis and genetic counseling according to ultrasound fetal abnormality. At the beginning of the era of pangenomic molecular fetal investigations, our study gives crucial informations about the chromosomal classification of sonographic markers. Patients with balanced X-autosome translocations and premature ovarian failure POF are an interesting paradigm to study the positioning effect of chromosome segments.

We fine-mapped the breakpoints in six patients with POF and balanced Xq-autosome translocations, established lymphoblastoid cell lines from patients and matched female controls and profiled their transcriptome through RNA-seq. Previous transcriptome studies pinpointed that cellular assembly and maintenance are among the most expressed pathways in ovarian cells.

Additionally, GWAS showed that immune pathway-related genes were associated with age at normal menopause, allowing to postulate that genes involved in this regulation could also be involved in POF. As the perturbed transcripts are neither mapping to the X chromosome, nor to the autosome breakpoint, this might indicate that the effect is indirect, and the phenotype is triggered by perturbations of normal contacts between genes and their regulatory elements.

To further challenge this model, we are currently assessing the chromatin accessibility of the same cell lines. These results should help elucidating the impact of derivative chromosomes repositioning within interphase nuclei. Bipolar disorder BD is associated with premature mortality and higher incidence of age-related disorders compared to the general populations. Several studies reported premature cell senescence in BD, by reduced telomere length in affected subjects and have also shown that antidepressants and lithium Li may have a protective effect against telomere shortening.

In our previous work Squassina et al. Correlation between LTL and age at onset, number of manic and depressive episodes, years of illness before start of Li treatment and duration of Li treatment was assessed by real-time PCR. Our data show: that BD patients with Li treatment have longer LTL compared to BD subjects never exposed to Li and to controls also in the extended sample, and support previous findings showing that long-term Li treatment has a protective effect against telomere shortening in BD.

Further analyses are ongoing to validate our findings. Prader-Willi Syndrome PWS , the most frequent type of syndromic obesity, is a complex multi-organ disease caused by the lack of expression of paternal genes in 15qq The objective of this study was to further investigate, with MLPA technique, 49 patients suspected of PWS who were negative for alterations on 15qq13 investigated with the methylation-specific PCR testing.

The other results reinforce the contribution of the mentioned cytogenetic and epigenetic alterations to obesity, energy balance and other PW-like characteristics.

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Statistically, every year in Ukraine about 5. They need emergency intensive care, surgical correction and adequate diagnosis of syndromic pathology. Materials and methods. The proband, a month-old girl, was referred to the center of medical genetic from the center of pediatric cardiology and cardiac surgery. She has congenital heart disease: multiple ventricular septal defects, congenital pulmonary valve stenosis, open oval window. Prenatal ultrasound screening was performed 3 times: weeks - multiple ventricular septum defects in the fetus; 18 weeks - cleft lip, hydrocephaly and the central nervous system developmental malformation; on 22 weeks — tetralogy of Fallot.

Genetic counseling: the child does not hold her head, does not sit, no convulsions, normal height, weight - second degree of malnutrition. Phenotype: microcephaly, prominent forehead, sunken nose, antimongoloid shape of eyes, epicant, 2-sided complete cleft lip and palate, deformed ears, wide set nipples, violation of the finger row on the feet, broad great toe, muscular hypotonia, developmental delay.

Standard chromosomal analysis suggested a terminal deletion of the short arm of chromosome 1. FISH-analysis showed the absence of a 1p36 locus signal on one of the homologous chromosomes. Result: 46,XX,? Conclusion: 1p36 syndrome was confirmed for the first time in 10 years of clinical observations and is an important precursor for understanding this pathology. Hereditary multiple exostoses HME is an autosomal dominant skeletal disorder characterized by the development of multiple, circumscript, occasionally painful and usually symmetric bony protuberances called osteochondromas.

Most pathogenic mutations are nonsense followed by missense mutations and deletions. We report on a patient with a rare and complex genotype resulting in a classical HME phenotype. The patient was subsequently referred for karyotype and array-CGH analyses. Subsequently, array-CGH analysis revealed a novel heterozygous deletion within the EXT1 gene at the inversion breakpoints, rendering the inversion as unbalanced. The inheritance mode as well as the size of the deletion was further investigated by qRT-PCR and the deletion was characterized as a de novo 3.

The inversion in combination with the 8p To conclude, a rare and novel pathogenic cause of HME is presented in this study, highlighting the importance of additional comprehensive cytogenetic investigation when EXT1 and EXT2 mutation analysis is negative. Early nephroblastoma development poses the urgency of DNA diagnostics in all patients with clinical signs of congenital aniridia.

DNA diagnostics was performed in patients from unrelated families from Russia: patients from unrelated families with AN and 11 patients from 11 families with WAGR. A total of different mutations: small PAX6 intragenic variants and 42 large deletions were found in patients with AN.

The localization of chromosome breakpoints and the length of the deleted regions varied 0. The same deletion affecting PAX6 downstream regulatory regions 0. Analysis of chromosomal imbalance of the 11p13 region is an important step of the DNA diagnostics in patients with AN in Russia, not only due to the importance of early detection of WAGR deletions, but also by the high frequency of large chromosome rearrangements among genetic causes of AN in the Russian population.

Chromosomal microarray analysis CMA is the first-tier test for developmental delay, autism spectrum disorders, and congenital abnormalities in postnatal diagnosis and for ultrasound abnormalities in prenatal diagnosis. The aim of this study is to identify from the literature a set of SL-CNV, and the corresponding penetrance for each variant, determining their occurrence in our cohort of postnatal samples ran between January and August and prenatal samples ran between January and August We have established a 21 SL-CNV set, and from a total of postnatal samples and prenatal samples we have identified 36 and 11 cases, respectively, with a variant in one of the 21 established SL-CNV.

The estimated penetrance for each of the established SL-CNV present some inter-publication variability, especially concerning samples with different phenotypes. Nevertheless some variants show concordance. Estimating the penetrance for SL-CNV, and their clinical impact for the patient or carriers in the family, is a complex task. Interstitial 19q Since only a few patients have been reported, little is known about the phenotypic spectrum of these deletions. To expand the knowledge on interstitial 19q No cardiac abnormalities, facial asymmetry, ptosis or micrognathia were present in our patients.

Patient 1, with a 1 Mb deletion 19q New features noted in patients with 19q Major clinical features seem to differ between the patients with 19q In addition, some of the previously presented key features for this microdeletion are absent in our patients. As a consequence, the syndrome may not be as recognizable as previously suggested. Identification of other patients is necessary to further delineate the clinical phenotype of the 19q To determine the incidence of X chromosome mosaicism in women planning to enter an in vitro fertilization IVF cycle.

Peripheral blood karyotyping was performed by conventional cytogenetic techniques. Written informed consent was obtained from all women.

Twelve women 1. Specifically, 72 Although X-chromosome mosaicism was commonly observed in women with infertility in our series, without comparison with age matched controls fertile women we are unable to say whether it was the cause of infertility. Background: Autism spectrum disorders ASD are a heterogeneous group of neurodevelopmental diseases. ASD affect many children and usually manifest themselves in the earlier stages of life. Array CGH offers superior sensitivity for the identification of submicroscopic chromosomal abnormalities and it is considered to be the first-tier genetic testing technique for patients with ASD.

Taking into account a phenotype-genotype correlation the patients were divided in two groups. In the group with this correlation, we found 22 pathogenic or likely pathogenic CNVs 10 deletions and 12 duplications. Within this group we were able to perform parent studies in 6 cases, 5 inherited and 1 de novo.

Conclusion: The identification of copy number variations in children and adolescents with autistic disorders highlight the relevance of array comparative genomic hybridization as the first-tier genetic test. Next sequencing generation NGS , with specific ASD panels for the most common mutations, has widely been used to assess patients.

We nonetheless underline the need for better data in NGS for reducing the uncertainty of the results. The aim of the study was to assess the efficacy of particular methods for the detection of variants in SHOX and to evaluate the positive predictive value PPV of short stature in the detection of SHOX variants. MLPA shows the highest Mosaicism of X monosomy and structural aberrations of gonosomes were also detected by karyotyping and FISH—detection rates were 3. FISH on buccal smear discovered cryptic mosaic 45,X in two cases with normal karyotype, which might have otherwise been overlooked.

This implies the strong influence of other genes contributing to human height especially in the group of ISS patients. Mosaicism with an unbalanced autosomal translocation and a normal cell line is extremely rare event. To our knowledge just about 20 cases are reported. We present three cases of mosaicism with an unbalanced autosomal translocation and a normal cell line detected by molecular cytogenetic diagnosis.

The karyotypes and FISH analyses of the parents were normal in these cases, thereby all mosaic unbalanced translocations were de novo. Case 1. The patient 2. The karyotype of the patient was normal. Array-CGH analysis revealed a terminal deletion of the chromosome 8 8p Unexpectedly additional FISH analysis showed an unbalanced translocation der 8 t 8;10 p Case 2.

Chromosome analysis revealed a mosaicism with a normal cell line and a derivative chromosome 5. Subtelomeric probes on chromosome 9 were applied to identify a translocation arm and consider a level of mosaicism. Combined with the banding data the karyotype was determined as mos 46,XY,der 5 t 5;9 p Case 3. Karyotype showed an additional material on chromosome 14q.


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Moreover in this case we could determine mosaicism in both blood and on buccal mucosal cells. Using the genotype-first approach more than loci across the human genome related to pathogenic microdeletions and microduplications were identified so far. The significant phenotypic variability among patients with identical pathogenic CNVs results in complications and uncertainty in the genetic counselling for the assessment of prognosis and challenges to additional whole genomic analyses.

Based on the results of complex whole genomic analyses the phenomenon of variable expressivity leading to the phenotypic variability among patients with recurrent pathogenic CNVs can be explained using the "two-hit" model. In our study we present clinical characteristics of 8 patients with two structurally independent submicroscopic pathogenic CNVs dup 2q The comparison of their phenotypes to the typical phenotypes related to given pathogenic CNVs may help to specify their partial impact on the total phenotypic effect.

We report on a male patient born from the first pregnancy of non-consanguineous healthy Caucasian parents referred to counseling at the age of 5 for evaluation for developmental retardation, severe delay in expressive speech but good receptive language abilities, brachycephaly, flat face, midface hypoplasia, hypotelorism, down-slanting palpebral fissures, flat nasal root, short nose, anteverted nares, short philtrum, thin upper vermillion, orofacial hypotonia with sialorrhea, small teeth with diasthema, tapering fingers, wide toes, and a mild generalized hypotonia.

Apart from valvular pulmonary artery stenosis diagnosed at 2 weeks of age and unilateral cryptorchidism no other malformations were known. Molecular karyotyping using microarray analysis revealed a heterozygous deletion of approximately kb out of the chromosomal region 9q Deletions and mutations of the EHMT1 gene are associated with the rare genetic disorder Kleefstra syndrome Kleefstra et al.

Kleefstra syndrome is characterised by intellectual disability, often accompanied by a spectrum of complex physical and clinical features. Genotype — phenotype correlation studies revealed, that patients with intragenic mutations or small microdeletion like in our patient show very similar phenotypic abnormalities and only mild mental retardation Yatsenko et al.

A small supernumerary marker chromosome SSMC is a structurally abnormal additional chromosome, most often lacking a distinct banding pattern and is rarely identifiable by conventional banding cytogenetic analysis. The origin and composition of an SSMC is recognizable by molecular cytogenetic analysis.

The effects of SSMCs on the phenotype depend on the size, genetic content, and the level of mosaicism of the marker chromosome. We report two cases of SSMCs: 1 3-year-old boy, referred due to developmental problems, dysmorphism and microcephaly. CMA revealed both single and two-copy-gain in region 15q This is likely a more complex rearrangement than idic Clinical picture and laboratory results of both cases will be presented on the poster.

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The smallest region of overlap for 15q Here we report on a series of 5 children carrying 15q Material and methods: four boys and one girl were investigated by array CGH. In all patients the personal history, psychomotor development and behavior, presence of dysmorphic features, neuroimaging and EEG anomalies were noted. Results: The size of the duplications ranged from 9. The most common clinical features present in all patients were speech delay and muscle hypotonia; autistic behavior was noted in 4 children, and ID was present in 3 patients. Four patients had feeding problems; one child presented epileptic seizures, but EEG anomalies were observed in 3 children.

Regarding the dysmorphic features, we noted facial dysmorphic features in 3 patients only, including malformed protruding ears, up-slanting palpebral fissures, micrognathia; however, a specific facial gestalt could not be described. Neuroimaging studies showed anomalies in 2 children: Dandy-Walker malformation and small bilateral periventricular cysts, respectively. In our cases the duplication size does not correlate with the severity of clinical features.

Conclusions: 15q Our results further support the association of 15q We examined patients originally considered to have Turner syndrome. Karyotyping was performed uniformly in all. The proportion of gonosomes was examined by FISH in cells obtained from three different germ layers: uncultivated lymphocytes from peripheral blood mesoderm , buccal smear ectoderm and smear from the root of the tongue endoderm.

In patients with monosomy X haplotyping was performed to detect the parental origin and the findings were correlated with phenotype. We aim to determine the gonosomal profile in the three germ layers, to verify the hypothesis of hidden mosaicism in Turner syndrome patients, to divide patients into subgroups according to cytogenetic findings, to detect the parental origin of the chromosome X and to correlate laboratory findings with phenotype.

The G banded karyotype was performed from 50 metaphases from peripheral lymphocytes. FISH examination of nuclei was performed with centromeric probes Cytocell on three germ layers. This underlines the importance of FISH analysis of uncultivated lymphocytes and buccal smear cells in patients with Turner syndrome. According to this outcome it would be beneficial to reassess the way in which cytogenetic analysis is done for Turner syndrome diagnosis.

Supported by Ministry of Health of the Czech Republic, grant nr. All rights reserved. Neocentromere formation has been reported in more than small supernumerary marker chromosomes sSMC. We report the formation of a neocentromere within a supernumerary marker chromosome derived from chromosome 12 in a five year old patient with developmental delay, microcephaly and hexadactyly.

Chromosomal analysis of the boy showed an aberrant karyotype with a derivative chromosome 12 demonstrating additional chromosome 4 specific material inserted into the distal part of the long arm ins 12;4 q Array-CGH was performed and revealed a gain of FISH analysis confirmed the interstitial insertion of chromosome 4 material into the long arm of the derivative chromosome The marker chromosome stained completely with a wcp12 probe but centromere probes for chromosomes 4 and 12 were both negative suggesting the formation of a neocentromere within region 12q2?

In total, the complex rearrangement resulted in a partial trisomy 4q in the boy as a presumable explanation for the phenotype. The healthy mother possesses the insertion ins 12;4 q During meiosis a normal chromosome 4, the derivative chromosome 12 and the marker chromosome were passed on to the son leading to the unbalanced karyotype as described above.