NDLI: Chromosome 4q deletion syndrome: narrowing the cardiovascular critical region to 4q32.2-q34.3.

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Chromosome 4q deletion syndrome: narrowing the cardiovascular critical region to 4q32.2-q34.3.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Xu, Wenbo Ahmad, Ayesha Dagenais, Susan Iyer, Ramaswamy K. Innis, Jeffrey W.
Description	Country affiliation: United States Author Affiliation: Xu W ( Department of Pediatrics, The University of Michigan Medical School, Ann Arbor, Michigan, USA.)
Abstract	The 4q deletion syndrome is a rare chromosome deletion syndrome with a wide range of clinical phenotypes. There is limited clinical phenotype and molecular correlation for congenital heart defects (CHDs) reported so far for this region primarily because many cases are large deletions, often terminal, and because high-resolution array has not been reported in the evaluation of this group of patients. CHDs are reported in about 60% of patients with 4q deletion syndrome, occurring in the presence or absence of dHAND deletion, implying the existence of additional genes in 4q whose dosage influences cardiac development. We report an 8-month-old patient with a large mid-muscular to outlet ventricular septal defect (VSD), moderate-sized secundum-type atrial septal defect (ASD), thickened, dysplastic pulmonary valve with mild stenosis and moderate pulmonic regurgitation, and patent ductus arteriosus (PDA). Illumina CytoSNP array analysis disclosed a de novo, heterozygous, interstitial deletion of 11.6 Mb of genomic material from the long arm of chromosome 4, at 4q32.3-q34.3 (Chr4:167236114-178816031; hg18). The deleted region affects 37 RefSeq genes (hg18), including two provisional microRNA stemloops. Three genes in this region, namely TLL1 (Tolloid-like-1), HPGD (15-hydroxyprostaglandin dehydrogenase), and HAND2 (Heart and neural crest derivatives-expressed protein 2), are known to be involved in cardiac morphogenesis. This report narrows the critical region responsible for CHDs seen in 4q deletion syndrome.
File Format	HTM / HTML
ISSN	15524825
Issue Number	3
Volume Number	158A
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2012-03-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Human Discipline Genetics Cardiovascular System Anatomy & Histology Chromosome Deletion Chromosomes, Human, Pair 4 Chromosomes, Artificial, Bacterial Comparative Genomic Hybridization Female Gene Dosage Humans In Situ Hybridization, Fluorescence Infant Male Case Reports Journal Article
Content Type	Text
Resource Type	Article Case study
Subject	Genetics Genetics (clinical)

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