Document Detail

Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism.
MedLine Citation:
PMID:  20424646     Owner:  NLM     Status:  MEDLINE    
A mosaicism is defined by the presence of two or more populations of cells with different genotypes in one individual. Chromosomal germinal mosaicism occurs in germ cells before the onset of meiosis. Previously, few studies have described germinal mosaicism. In this study, we report on two siblings who carried identical pure and direct interstitial 4q22.2q32.3 duplication. Procedure investigations included complete clinical description, conventional cytogenetic analysis, fluorescence in situ hybridization (FISH), comparative genomic hybridization (CGH) array experiments and microsatellite study searching for parental origin of the duplication. Microarray CGH and further FISH experiments with BAC clones showed the same 70.8 Mb direct duplication, dup(4)(q22.2q32.3). Molecular studies of the 4q duplication were consistent with maternal origin associated with mitotic or meiotic rearrangements. This structural chromosomal aberration was associated in both cases with increased nuchal translucency, growth retardation and dysmorphy. Cardiopathy and lung malformations were only evident in the first case. These clinical manifestations are similar to those previously reported in previous studies involving pure 4q trisomy of the same region, except for thumb and renal abnormalities that were not obvious in the presented cases. The amplified region included genes involved in neurological development (NEUROG2, MAB21L2, PCDH10/18 and GRIA2). The recurrent 4q duplication in these siblings is consistent with a maternal ovarian germinal mosaicism. This is the first description of germinal mosaicism for a large chromosomal duplication and highlights that genetic counselling for apparently de novo chromosome aberration should be undertaken with care.
Lucie Tosca; Sophie Brisset; François M Petit; Laure Lecerf; Ghislaine Rousseau; Cécile Bas; Mireille Laroudie; Marie-Laure Maurin; Sylvie Tapia; Olivier Picone; Sophie Prevot; Michel Goossens; Philippe Labrune; Gérard Tachdjian
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2010-04-28
Journal Detail:
Title:  European journal of human genetics : EJHG     Volume:  18     ISSN:  1476-5438     ISO Abbreviation:  Eur. J. Hum. Genet.     Publication Date:  2010 Aug 
Date Detail:
Created Date:  2010-07-28     Completed Date:  2010-11-01     Revised Date:  2013-05-29    
Medline Journal Info:
Nlm Unique ID:  9302235     Medline TA:  Eur J Hum Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  882-8     Citation Subset:  IM    
AP-HP, Histologie, Embryologie et Cytogénétique, Hôpital Antoine Béclère, 157 rue de la Porte de Trivaux, Clamart Cedex, France.
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MeSH Terms
Child, Preschool
Chromosome Aberrations*
Chromosomes, Human, Pair 4 / genetics*
Cytogenetic Analysis
Gene Duplication
Gene Rearrangement / genetics*
Genetic Counseling
Microsatellite Repeats

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