PMID- 20424646
OWN - NLM
STAT- MEDLINE
DCOM- 20101101
LR  - 20211020
IS  - 1476-5438 (Electronic)
IS  - 1018-4813 (Print)
IS  - 1018-4813 (Linking)
VI  - 18
IP  - 8
DP  - 2010 Aug
TI  - Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism.
PG  - 882-8
LID - 10.1038/ejhg.2010.46 [doi]
AB  - 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.
FAU - Tosca, Lucie
AU  - Tosca L
AD  - AP-HP, Histologie, Embryologie et Cytogenetique, Hopital Antoine Beclere, 157 rue 
      de la Porte de Trivaux, Clamart Cedex, France. lucie.tosca@abc.aphp.fr
FAU - Brisset, Sophie
AU  - Brisset S
FAU - Petit, Francois M
AU  - Petit FM
FAU - Lecerf, Laure
AU  - Lecerf L
FAU - Rousseau, Ghislaine
AU  - Rousseau G
FAU - Bas, Cecile
AU  - Bas C
FAU - Laroudie, Mireille
AU  - Laroudie M
FAU - Maurin, Marie-Laure
AU  - Maurin ML
FAU - Tapia, Sylvie
AU  - Tapia S
FAU - Picone, Olivier
AU  - Picone O
FAU - Prevot, Sophie
AU  - Prevot S
FAU - Goossens, Michel
AU  - Goossens M
FAU - Labrune, Philippe
AU  - Labrune P
FAU - Tachdjian, Gerard
AU  - Tachdjian G
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20100428
PL  - England
TA  - Eur J Hum Genet
JT  - European journal of human genetics : EJHG
JID - 9302235
SB  - IM
MH  - Child, Preschool
MH  - *Chromosome Aberrations
MH  - Chromosomes, Human, Pair 4/*genetics
MH  - Cytogenetic Analysis
MH  - Female
MH  - Gene Duplication
MH  - Gene Rearrangement/*genetics
MH  - Genetic Counseling
MH  - Humans
MH  - Karyotyping
MH  - Microsatellite Repeats
MH  - *Mosaicism
MH  - Ovum
MH  - Siblings
PMC - PMC2987392
MID - HALMS515192
OID - NLM: HALMS515192
EDAT- 2010/04/29 06:00
MHDA- 2010/11/03 06:00
PMCR- 2011/08/01
CRDT- 2010/04/29 06:00
PHST- 2010/04/29 06:00 [entrez]
PHST- 2010/04/29 06:00 [pubmed]
PHST- 2010/11/03 06:00 [medline]
PHST- 2011/08/01 00:00 [pmc-release]
AID - ejhg201046 [pii]
AID - 10.1038/ejhg.2010.46 [doi]
PST - ppublish
SO  - Eur J Hum Genet. 2010 Aug;18(8):882-8. doi: 10.1038/ejhg.2010.46. Epub 2010 Apr 
      28.