Document Detail

8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients.
MedLine Citation:
PMID:  23345203     Owner:  NLM     Status:  MEDLINE    
The 8p23.1 duplication syndrome is a relatively rare genomic condition that has been confirmed with molecular cytogenetic methods in only 11 probands and five family members. Here, we describe another prenatal and five postnatal patients with de novo 8p23.1 duplications analyzed with oligonucleotide array comparative genomic hybridization (oaCGH). Of the common features, mild or moderate developmental delays and/or learning difficulties have been found in 11/12 postnatal probands, a variable degree of mild dysmorphism in 8/12 and congenital heart disease (CHD) in 4/5 prenatal and 3/12 postnatal probands. Behavioral problems, cleft lip and/or palate, macrocephaly, and seizures were confirmed as additional features among the new patients, and novel features included neonatal respiratory distress, attention deficit hyperactivity disorder (ADHD), ocular anomalies, balance problems, hypotonia, and hydrocele. The core duplication of 3.68 Mb contains 31 genes and microRNAs of which only GATA4, TNKS, SOX7, and XKR6 are likely to be dosage sensitive genes and MIR124-1 and MIR598 have been implicated in neurocognitive phenotypes. A combination of the duplication of GATA4, SOX7, and related genes may account for the variable penetrance of CHD. Two of the duplications were maternal and intrachromosomal in origin with maternal heterozygosity for the common inversion between the repeats in 8p23.1. These additional patients and the absence of the 8p23.1 duplications in published controls, indicate that the 8p23.1 duplication syndrome may now be considered a pathogenic copy number variation (pCNV) with an estimated population prevalence of 1 in 58,000.
John C K Barber; Jill A Rosenfeld; Nicola Foulds; Sophie Laird; Mark S Bateman; N Simon Thomas; Samantha Baker; Viv K Maloney; Arayamparambil Anilkumar; Wendy E Smith; Valerie Banks; Sara Ellingwood; Yara Kharbutli; Lakshmi Mehta; Keith A Eddleman; Michael Marble; Regina Zambrano; John A Crolla; Allen N Lamb
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2013-01-23
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  161A     ISSN:  1552-4833     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2013 Mar 
Date Detail:
Created Date:  2013-02-25     Completed Date:  2013-08-05     Revised Date:  2013-08-13    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  487-500     Citation Subset:  IM    
Copyright Information:
Copyright © 2013 Wiley Periodicals, Inc.
Faculty of Medicine, Department of Human Genetics and Genomic Medicine, University of Southampton, Southampton General Hospital, Southampton, UK.
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MeSH Terms
Abnormal Karyotype
Abnormalities, Multiple / diagnosis*,  genetics
Chromosomes, Human, Pair 8 / genetics
Comparative Genomic Hybridization
Developmental Disabilities / diagnosis*,  genetics
Learning Disorders / diagnosis*,  genetics
Trisomy / diagnosis*,  genetics

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