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Monozygotic twins concordant for blood karyotype, but phenotypically discordant: a case of "mosaic chimerism".
- Source :
-
American journal of medical genetics. Part A [Am J Med Genet A] 2005 Jun 01; Vol. 135 (2), pp. 190-4. - Publication Year :
- 2005
-
Abstract
- 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.<br /> (Copyright (c) 2005 Wiley-Liss, Inc.)
- Subjects :
- Adult
Chromosome Aberrations
Chromosome Banding
Chromosomes, Human, Pair 11 genetics
Diseases in Twins genetics
Diseases in Twins pathology
Female
Humans
In Situ Hybridization, Fluorescence
Intellectual Disability pathology
Karyotyping
Phenotype
Twins, Monozygotic blood
Mosaicism
Twins, Monozygotic genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1552-4825
- Volume :
- 135
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- American journal of medical genetics. Part A
- Publication Type :
- Academic Journal
- Accession number :
- 15832362
- Full Text :
- https://doi.org/10.1002/ajmg.a.30674