PMID- 15832362
OWN - NLM
STAT- MEDLINE
DCOM- 20050627
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 135
IP  - 2
DP  - 2005 Jun 1
TI  - Monozygotic twins concordant for blood karyotype, but phenotypically discordant: 
      a case of "mosaic chimerism".
PG  - 190-4
AB  - We report on 23 years old discordant monozygotic (MZ) twins, one with minor 
      anomalies and mental delay, the other one being normal. Both had 
      46,XX,dup(11)(p12p15)/46,XX mosaicism in blood, with a similar proportion of 
      abnormal cells (respectively, 16% and 17%). However, interphase fluorescence in 
      situ hybridization (FISH) analysis performed on buccal smear and urinary sediment 
      using specific probes located at the duplicated region showed that mosaicism was 
      only present in the abnormal twin, with 68% abnormal cells. We hypothesize that 
      the postzygotic chromosomal rearrangement may have occurred early in one embryo 
      after the twinning event, and the blood mosaicism observed in both twins would 
      have resulted from blood exchanges via placental anastomoses. This hypothesis of 
      chimerism is strongly supported by twin-to-twin transfusion syndrome observed 
      during fetal life of our twins. This case and those previously reported lead us 
      to suggest that blood is particularly unsuitable for cytogenetic investigations 
      of twins.
CI  - Copyright (c) 2005 Wiley-Liss, Inc.
FAU - Bourthoumieu, Sylvie
AU  - Bourthoumieu S
AD  - Department of Histology, Limoges University Hospital, Limoges, France.
FAU - Yardin, Catherine
AU  - Yardin C
FAU - Terro, Faraj
AU  - Terro F
FAU - Gilbert, Brigitte
AU  - Gilbert B
FAU - Laroche, Cecile
AU  - Laroche C
FAU - Saura, Robert
AU  - Saura R
FAU - Vincent, Marie-Claire
AU  - Vincent MC
FAU - Esclaire, Francoise
AU  - Esclaire F
LA  - eng
PT  - Case Reports
PT  - Comparative Study
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Adult
MH  - Chromosome Aberrations
MH  - Chromosome Banding
MH  - Chromosomes, Human, Pair 11/genetics
MH  - Diseases in Twins/genetics/pathology
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Intellectual Disability/pathology
MH  - Karyotyping
MH  - *Mosaicism
MH  - Phenotype
MH  - Twins, Monozygotic/blood/*genetics
EDAT- 2005/04/16 09:00
MHDA- 2005/06/28 09:00
CRDT- 2005/04/16 09:00
PHST- 2005/04/16 09:00 [pubmed]
PHST- 2005/06/28 09:00 [medline]
PHST- 2005/04/16 09:00 [entrez]
AID - 10.1002/ajmg.a.30674 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2005 Jun 1;135(2):190-4. doi: 10.1002/ajmg.a.30674.