Back to Search
Start Over
Monozygotic twins concordant for blood karyotype, but phenotypically discordant: A case of 'mosaic chimerism'
- Source :
- American Journal of Medical Genetics Part A. :190-194
- Publication Year :
- 2005
- Publisher :
- Wiley, 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.
- Subjects :
- Adult
medicine.medical_specialty
Buccal swab
Monozygotic twin
Chromosomal rearrangement
Biology
Andrology
Intellectual Disability
Diseases in Twins
Genetics
medicine
Humans
In Situ Hybridization, Fluorescence
Genetics (clinical)
Chromosome Aberrations
Fetus
medicine.diagnostic_test
Mosaicism
Chromosomes, Human, Pair 11
Cytogenetics
Karyotype
Twins, Monozygotic
Chromosome Banding
Phenotype
Karyotyping
dup
Immunology
Female
Fluorescence in situ hybridization
Subjects
Details
- ISSN :
- 15524833 and 15524825
- Database :
- OpenAIRE
- Journal :
- American Journal of Medical Genetics Part A
- Accession number :
- edsair.doi.dedup.....795111c52da3c3b424eca3e7ebed3479