scholarly journals Detection and Inheritance Pattern of Copy Number Variations (CNVs) in Children with Multiple Congenital Anomalies

2014 ◽  
Vol 7 (Suppl 1) ◽  
pp. I35
Author(s):  
Frenny Sheth
Keyword(s):  
Congenital Anomalies ◽  
Copy Number ◽  
Copy Number Variations ◽  
Inheritance Pattern ◽  
Multiple Congenital Anomalies

scholarly journals Multiple de novo copy number variations in two subjects with developmental problems and multiple congenital anomalies

2012 ◽  
Vol 6 (S6) ◽  
Author(s):  
Pengfei Liu ◽  
Klaudia Walter ◽  
Karin Writzl ◽  
Violet Gelowani ◽  
Sarah Lindsay ◽  
...  
Keyword(s):  
Congenital Anomalies ◽  
Copy Number ◽  
De Novo ◽  
Copy Number Variations ◽  
Multiple Congenital Anomalies ◽  
Developmental Problems

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.

Subtelomeric Copy Number Variations: The Importance of 4p/4q Deletions in Patients with Congenital Anomalies and Developmental Disability

2016 ◽  
Vol 149 (4) ◽  
pp. 241-246 ◽  
Author(s):  
Gil M. Novo-Filho ◽  
Marília M. Montenegro ◽  
Évelin A. Zanardo ◽  
Roberta L. Dutra ◽  
Alexandre T. Dias ◽  
...  
Keyword(s):  
Developmental Disability ◽  
Congenital Anomalies ◽  
Copy Number ◽  
Neurological Diseases ◽  
Copy Number Variations ◽  
Structural Variations ◽  
Genomic Changes ◽  
Subtelomeric Regions

The most prevalent structural variations in the human genome are copy number variations (CNVs), which appear predominantly in the subtelomeric regions. Variable sizes of 4p/4q CNVs have been associated with several different psychiatric findings and developmental disability (DD). We analyzed 105 patients with congenital anomalies (CA) and developmental and/or intellectual disabilities (DD/ID) using MLPA subtelomeric specific kits (P036 /P070) and 4 of them using microarrays. We found abnormal subtelomeric CNVs in 15 patients (14.3%), including 8 patients with subtelomeric deletions at 4p/4q (53.3%). Additional genomic changes were observed at 1p36, 2q37.3, 5p15.3, 5q35.3, 8p23.3, 13q11, 14q32.3, 15q11.2, and Xq28/Yq12. This indicates the prevalence of independent deletions at 4p/4q, involving PIGG, TRIML2, and FRG1. Furthermore, we identified 15 genes with changes in copy number that contribute to neurological development and/or function, among them CRMP1, SORCS2, SLC25A4, and HELT. Our results highlight the association of genes with changes in copy number at 4p and 4q subtelomeric regions and the DD phenotype. Cytogenomic characterization of additional cases with distal deletions should help clarifying the role of subtelomeric CNVs in neurological diseases.

scholarly journals Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease

Proceedings ◽  
2020 ◽  
Vol 76 (1) ◽  
pp. 8
Author(s):  
Marisol Delea ◽  
Lucía Massara ◽  
Lucía Espeche ◽  
María Bidondo ◽  
Pablo Barbero ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Anomalies ◽  
Congenital Heart ◽  
Diagnostic Yield ◽  
Copy Number Variations ◽  
Public Hospitals ◽  
Deletion Syndrome ◽  
Comparative Genomic ◽  
Multiple Congenital Anomalies

In this work, we aim to identify the genetic causes of pathogenesis in Argentinean patients with multiple congenital anomalies (MCA) and isolated Congenital Heart Disease (iCHD). We recruited 174 MCA and 194 iCHD patients from 15 public hospitals. Karyotyping was performed for MCA patients, and MLPA for conotruncal CHD or suspected 2q11 Deletion Syndrome (22q11DS). Selected samples were analyzed by array-CGH (Comparative genomic hybridization) (n = 89) and/or Next-Generation Sequencing (NGS) (n = 18). We successfully analyzed 252/368 patients: 14 had cytogenetic abnormalities, 27 had imbalances in 22q11, and 16 had other clinically relevant copy number variations (CNVs). NGS revealed 12 relevant nucleotide variants (five novels). Combining molecular, clinical and genetic evaluations, the diagnostic yield was 26.2%.

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