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

Emily C. Lisi; Ada Hamosh; Kimberly F. Doheny; Elizabeth Squibb; Barbara Jackson; Rebecca Galczynski; George H. Thomas; Denise A.S. Batista

doi:10.1002/ajmg.a.32190

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

Emily C. Lisi, Ada Hamosh, Kimberly F. Doheny, Elizabeth Squibb, Barbara Jackson, Rebecca Galczynski, George H. Thomas, Denise A.S. Batista

Research output: Contribution to journal › Article › peer-review

Abstract

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 nonallelic homologous recombination between regions of low copy repeats present around the breakpoints.

Original language	English (US)
Pages (from-to)	601-609
Number of pages	9
Journal	American Journal of Medical Genetics, Part A
Volume	146
Issue number	5
DOIs	https://doi.org/10.1002/ajmg.a.32190
State	Published - Mar 1 2008

Keywords

Array CGH
Deletion 3q29
Duplication 3q29
Mental retardation
Microcephaly
SNP

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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3q29 Interstitial microduplication : A new syndrome in a three-generation family. / Lisi, Emily C.; Hamosh, Ada ; Doheny, Kimberly F.; Squibb, Elizabeth; Jackson, Barbara; Galczynski, Rebecca; Thomas, George H.; Batista, Denise A.S.

In: American Journal of Medical Genetics, Part A, Vol. 146, No. 5, 01.03.2008, p. 601-609.

Research output: Contribution to journal › Article › peer-review

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