3q29 interstitial microduplication: A new syndrome in a three-generation family

Microdeletion and microduplication genetic syndromes are known to be a significant cause of developmental delay and dysmorphology. Utilizing high‐resolution chromosome analysis, array CGH and SNP technologies we identified a novel genomic syndrome comprising of an interstitial duplication of approxi...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2008-03, Vol.146A (5), p.601-609
Main Authors: Lisi, Emily C., Hamosh, Ada, Doheny, Kimberly F., Squibb, Elizabeth, Jackson, Barbara, Galczynski, Rebecca, Thomas, George H., Batista, Denise A.S.
Format: Article
Language:English
Subjects:
Adult
Adult and adolescent clinical studies
array CGH
Biological and medical sciences
Chromosome Disorders - diagnosis
Chromosome Disorders - genetics
Chromosomes, Human, Pair 3
Classical genetics, quantitative genetics, hybrids
deletion 3q29
duplication 3q29
Family
Female
Fundamental and applied biological sciences. Psychology
Gene Duplication
Genetics of eukaryotes. Biological and molecular evolution
Human
Humans
In Situ Hybridization, Fluorescence
Infant
Intellectual deficiency
Intellectual Disability - genetics
Male
Malformations of the nervous system
Medical genetics
Medical sciences
mental retardation
microcephaly
Microcephaly - genetics
Middle Aged
Neurology
Pedigree
Polymorphism, Single Nucleotide
Psychology. Psychoanalysis. Psychiatry
Psychopathology. Psychiatry
SNP
Syndrome
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Summary:Microdeletion and microduplication genetic syndromes are known to be a significant cause of developmental delay and dysmorphology. Utilizing high‐resolution chromosome analysis, array CGH and SNP technologies we identified a novel genomic syndrome comprising of an interstitial duplication of approximately 1.61 Mb at the distal end of chromosome 3 band q29. The imbalance was present in five individuals in a three generation family with clinical features including mild to moderate mental retardation and microcephaly. The duplicated segment overlaps with and is the genomic counterpart of the recently described microdeletion of 3q29. Both syndromes are proposed to occur by non‐allelic homologous recombination between regions of low copy repeats present around the breakpoints. © 2008 Wiley‐Liss, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.32190