scholarly journals Levy-Shanske syndrome: mosaic tetrasomy 15q25.3→qter and review of the literature

2019 ◽  
pp. 40-47
Author(s):  
М.Е. Миньженкова ◽  
Ж.Г. Маркова ◽  
Н.А. Демина ◽  
А.А. Тарлычева ◽  
И.В. Канивец ◽  
...  
Keyword(s):  
Congenital Anomalies ◽  
Marker Chromosome ◽  
Distal Portion ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Chromosome 15 ◽  
Review Of The Literature ◽  
Multiple Congenital Anomalies ◽  
Molecular Cytogenetic ◽  
Inverted Duplication

Введение. Тетрасомия дистального района длинного плеча хромосомы 15 является довольно редким событием. В электронной базе данных по сверхчисленным маркерным хромосомам имеются сведения о 24 зарегистрированных случаях с инвертированной дупликацией дистального района длинного плеча хромосомы 15. Частичная тетрасомия 15q может наблюдаться вследствие появления сверхчисленной анальфоидной маркерной хромосомы, состоящей из инвертированной дупликации дистальной части длинного плеча хромосомы 15. Представлен случай мозаичной тетрасомии 15q25.3-qter, у пациента со множественными признаками дизэмбриогенеза. Цель. Молекулярно-цитогенетическая диагностика мозаичного случая инвертированной дупликации 15q25.3→qter у пациента с множественными врожденными аномалиями развития и обзор аналогичных случаев. Методы. Для идентификации малой сверхчисленной маркерной хромосомы и определения уровня мозаицизма использовали комплексную молекулярно-цитогенетическую диагностику, включающую хромосомный микроматричный анализ и FISH-исследование. Результаты. При стандартном цитогенетическом исследовании обнаружена сверхчисленная маркерная хромосома в мозаичном состоянии: 47,ХХ,+mar[8]/46,XX[23]. Для идентификации геномного дисбаланса использовали хромосомный микроматричный анализ, выявивший дупликацию участка длинного плеча хромосомы 15 размером 16,4 млн п.н. FISH-исследование позволило установить, что сверхчисленная маркерная хромосома представлена инвертированной дупликацией района q25.3→qter хромосомы 15 с неоцентромерой, и помогло уточнить уровень мозаицизма, который составил 35%. Заключение. Идентификация структуры и происхождения сверхчисленных маркерных хромосом у пациентов с множественными врожденными аномалиями развития является важной задачей цитогенетической лаборатории. Современные молекулярно-цитогенетические методы диагностики хромосомных аномалий позволяют выявить и охарактеризовать любой случай неоцентромерной формации. Introduction: Tetrasomy for the distal chromosome 15q is rare. Only 24 cases have been described in the literature to date. Tetrasomy for the distal portion of chromosome 15q can be due to a supernumerary analphoid marker chromosome consisting of an inverted duplication of the distal long arm of chromosome 15. We report on a molecular cytogenetic diagnosis of mosaic tetrasomy 15q25.3-qter in a patient with multiple congenital anomalies. Aim: Molecular cytogenetic diagnosis of mosaic case with inverted duplication for the distal portion of 15q25.3→qter in a patient with multiple congenital anomalies and review of the literature. Methods: The case of mosaic supernumerary marker chromosome was characterized by GTG-banding, chromosomal microarray analysis and FISH diagnosis. Results: The chromosome analysis of a child revealed a supernumerary marker chromosome in mosaicism: 47,ХХ,+mar[8]/46,XX[23]. Chromosomal microarray analysis detected a copy gain of 16.4 Mb from the distal long arm of chromosome 15. Further FISH analysis showed an inverted duplication of distal long arm of chromosome 15 with neocentromere. Conclusion: Identification of structure and origin supernumerical marker chromosomes at patients with multiple congenital anomalies is an important problem of cytogenetic diagnostics. Modern molecular -cytogenetic diagnostic methods of chromosomal anomalies allow identifying and characterizing any case of neocentromeres.

scholarly journals Application of Chromosome Microarray Analysis in the Investigation of Developmental Disabilities and Congenital Anomalies: Single Center Experience and Review of NRXN3 and NEDD4L Deletions

2020 ◽  
Vol 11 (4) ◽  
pp. 197-206
Author(s):  
Alper Han Çebi ◽  
Şule Altıner
Keyword(s):  
Developmental Disabilities ◽  
Microarray Analysis ◽  
Congenital Anomalies ◽  
Copy Number Variations ◽  
Step Test ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Multiple Congenital Anomalies ◽  
Single Center Experience ◽  
Genome Wide

Chromosomal microarray analysis (CMA) is a first step test used for the diagnosis of patients with developmental delay, intellectual disability, autistic spectrum disorder, and multiple congenital anomalies. Its widespread usage has allowed genome-wide identification of copy number variations (CNVs). In our study, we performed a retrospective study on clinical and microarray data of 237 patients with developmental disabilities and/or multiple congenital anomalies and investigated the clinical utility of CMA. Phenotype-associated CNVs were detected in 15.18% of patients. Besides, we detected submicroscopic losses on 14q24.3q31.1 in a patient with speech delay and on 18q21.31q21.32 in twin patients with seizures. Deletions of <i>NRXN3</i> and <i>NEDD4L</i> were responsible for the phenotypes, respectively. This study showed that CMA is a powerful diagnostic tool in this patient group and expands the genotype-phenotype correlations on developmental disabilities.

scholarly journals Molecular Characterization of Mosaicism for a Small Supernumerary Marker Chromosome Derived from Chromosome Y in an Infertile Male with Apparently Normal Phenotype: A Case Report and Literature Review

2019 ◽  
Vol 2019 ◽  
pp. 1-8
Author(s):  
Na An ◽  
Yang Yu ◽  
Qi Xi ◽  
Fagui Yue ◽  
Ruizhi Liu ◽  
...  
Keyword(s):  
Marker Chromosome ◽  
Normal Chromosome ◽  
Chromosomal Microarray ◽  
Banding Technique ◽  
Chromosomal Microarray Analysis ◽  
Infertile Male ◽  
Chromosome Y ◽  
Molecular Cytogenetic ◽  
Banding Analysis

Small supernumerary marker chromosomes (sSMCs), equal in size or smaller than chromosome 20 of the same metaphase, can hardly be identified through traditional banding technique. They are usually associated with intelligent disability, growth retardation, and infertility, but the genotype-phenotype correlations are still complicated for their complex origins and constitutions. Herein, we identified a 26-year-old Chinese infertile male who carried a mosaic sSMC and was diagnosed as severe oligospermia. The G-banding analysis initially described his karyotype as mos 47, XY, +mar[32]/46, XY[18]. The chromosomal microarray analysis results showed a 25.5 Mb gain in Yp11.31q11.23 and a 0.15 Mb loss in Yq12. Two SRY signals were discovered in the “seemingly” normal chromosome Y in both cell lines using SRY probe: one normal SRY was located on the distal tip of the short arm of chromosome Y while the other SRY was located on the terminal of long arm in the same chromosome Y. The sSMC(Y) was finally identified as der(Y) (pter ⟶ q11.23) (SRY-). To our knowledge, the chromosomal Y anomalies, SRY gene translocated from der(Y) (pter ⟶ q11.23) to qter of normal chromosome Y, were not reported before. Our findings indicated that the mosaic presence of sSMC(Y) may be the main cause of severe oligospermia although no other apparent abnormalities were observed in the proband. Further research on association between sSMC(Y) and spermatogenesis impairment should be investigated. It is recommended measures of traditional and molecular cytogenetic analysis should be taken to determine the origins and constitutions of sSMC so as to offer more appropriate genetic counseling for the infertile sSMC carriers.

scholarly journals A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Ben Pode-Shakked ◽  
Ortal Barel ◽  
Amihood Singer ◽  
Miriam Regev ◽  
Hana Poran ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Neurodevelopmental Disorders ◽  
Congenital Anomalies ◽  
Brain Magnetic Resonance Imaging ◽  
Autism Spectrum ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Publicly Funded ◽  
Multiple Congenital Anomalies ◽  
Tertiary Center

AbstractExome sequencing (ES) is an important diagnostic tool for individuals with neurodevelopmental disorders (NDD) and/or multiple congenital anomalies (MCA). However, the cost of ES limits the test's accessibility for many patients. We evaluated the yield of publicly funded clinical ES, performed at a tertiary center in Israel, over a 3-year period (2018–2020). Probands presented with (1) moderate-to-profound global developmental delay (GDD)/intellectual disability (ID); or (2) mild GDD/ID with epilepsy or congenital anomaly; and/or (3) MCA. Subjects with normal chromosomal microarray analysis who met inclusion criteria were included, totaling 280 consecutive cases. Trio ES (proband and parents) was the default option. In 252 cases (90.0%), indication of NDD was noted. Most probands were males (62.9%), and their mean age at ES submission was 9.3 years (range 1 month to 51 years). Molecular diagnosis was reached in 109 probands (38.9%), mainly due to de novo variants (91/109, 83.5%). Disease-causing variants were identified in 92 genes, 15 of which were implicated in more than a single case. Male sex, families with multiple-affected members and premature birth were significantly associated with lower ES yield (p < 0.05). Other factors, including MCA and coexistence of epilepsy, autism spectrum disorder, microcephaly or abnormal brain magnetic resonance imaging findings, were not associated with the yield. To conclude, our findings support the utility of clinical ES in a real-world setting, as part of a publicly funded genetic workup for individuals with GDD/ID and/or MCA.

Cloverleaf skull and multiple congenital anomalies in a girl exposed to cocaine in utero: case report and review of the literature

2000 ◽  
Vol 16 (3) ◽  
pp. 0176 ◽  
Author(s):  
M. C. Esmer ◽  
G. Rodriguez-Soto ◽  
D. Carrasco-Daza ◽  
M. L. Iracheta ◽  
V. Del Castillo
Keyword(s):  
Case Report ◽  
Congenital Anomalies ◽  
In Utero ◽  
Review Of The Literature ◽  
Multiple Congenital Anomalies ◽  
Cloverleaf Skull

Two-Generation Transmission of Trisomy 18p: Prenatal Diagnosis in a Woman with Mild Intellectual Disability

2019 ◽  
Vol 157 (4) ◽  
pp. 220-226
Author(s):  
Yang Yu ◽  
Yuting Jiang ◽  
Xiaonan Hu ◽  
Hongguo Zhang ◽  
Ruizhi Liu ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Prenatal Diagnosis ◽  
Prenatal Testing ◽  
Unknown Origin ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Chromosome 15 ◽  
Derivative Chromosome ◽  
Mild Intellectual Disability ◽  
Trisomy 18P

Trisomy 18p is a rarely observed chromosomal aberration. Only 31 cases have previously been described in the literature. Trisomy 18p is associated with mild to moderate phenotypic anomalies and intellectual disability. Here, we report on a pregnant woman in whom noninvasive prenatal testing indicated a high risk of fetal trisomy 18. Prenatal diagnosis and karyotyping of the parents were performed and demonstrated that both the mother and the fetus had a derivative chromosome 15 with a segment of unknown origin. Chromosomal microarray analysis and FISH revealed a 14.9-Mb duplication of 18p and detected 3 centromeres of chromosome 18. To our knowledge, this is the first study reporting trisomy 18p due to an unbalanced translocation of 18p onto chromosome 15q showing 2-generation transmission. The results suggest that trisomy 18p can be considered a euchromatic variant.

scholarly journals De Novo Duplication of Chromosome 7 (q21.1-q32); Case Report and Review of the Literature

2010 ◽  
Vol 13 (1) ◽  
pp. 35-37
Author(s):  
F Nasiri ◽  
F Mahjoubi ◽  
G Babamohammadi
Keyword(s):  
Case Report ◽  
Congenital Anomalies ◽  
Cytogenetic Analysis ◽  
De Novo ◽  
Chromosome 7 ◽  
Review Of The Literature ◽  
Multiple Congenital Anomalies ◽  
Upper Lip ◽  
Upper Eyelid ◽  
Partial Duplication

De Novo Duplication of Chromosome 7 (q21.1-q32); Case Report and Review of the LiteratureCytogenetic analysis of a 1-year-old boy with multiple congenital anomalies revealed partial duplication of the chromosome 7q21.2-q32 band region. His main features included: frontal bossing, small jaw, low-set ears, deep-set eyes, strabismus, drooping left upper eyelid, widely-spaced eyes, short nose, long philtrum, down-curved upper lip, camptodactyly and hypotonia.

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