Mosaicism for a balanced reciprocal translocation (BRTM) is rare. As far as we know only 26 cases of BRTM, demonstrated in lymphocyte cultures, have been described, five of which had an abnormal phenotype. Prenatally three confirmed cases with a normal phenotypic outcome have been described. Here we
✦ LIBER ✦
Two cases of C-group balanced translocations
✍ Scribed by Kyra Michalová; Jana Málková; Radovan Chrz
- Book ID
- 104696860
- Publisher
- Springer
- Year
- 1975
- Tongue
- English
- Weight
- 441 KB
- Volume
- 27
- Category
- Article
- ISSN
- 0340-6717
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✦ Synopsis
The present study describes 2 cases of a balanced reciprocal translocation in the C-group of autosomes. Familial translocation 46,XX,t(6;7) was found both in a woman cytogenetically examined because of a developmental anomaly of the internal genitals (uterus bicornis subseptus) and in her healthy mother. Chromosomal complement 46,XYt(8;10) was proved in the healthy father of a child showing clinical features of Down's syndrome with a karyotype 47,XY,21+. Q- and G-banding techniques were used for precise identification of the chromosomes involved in translocations.
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