Complex chromosome rearrangement and recombinant balanced translocation in a mother and a daughter with the same phenotypic abnormalities
✍ Scribed by Frédérique Tihy; N. Lemieux; E. Lemyre
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 128 KB
- Volume
- 135A
- Category
- Article
- ISSN
- 1552-4825
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## Abstract We report an unusual case of a familial complex chromosome rearrangement (CCR), ascertained through prenatal diagnosis. The fetus carried an apparently balanced CCR with a recombinant 3‐segment chromosome derived from two paternal reciprocal translocations involving both homologs of chr
We describe a complex and unique, de novo apparently balanced translocation involving chromosomes 4, 18, and 21 with 4 breakpoints, in a patient who was referred for an evaluation of possible fragile-X syndrome. Fluorescence in situ hybridization (FISH) confirmed the complexity of the rearrangement