Balanced reciprocal translocation mosaicism is rarely reported in humans. Only two previous cases have been associated with an abnormal phenotype. We report on a third case of apparently balanced reciprocal translocation mosaicism associated with an abnormal phenotype, largely different from those r
Balanced reciprocal translocation mosaicism: How frequent?
โ Scribed by Opheim, Kent E. ;Brittingham, Allen ;Chapman, Douglas ;Norwood, Thomas H.
- Book ID
- 101444825
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 364 KB
- Volume
- 57
- Category
- Article
- ISSN
- 0148-7299
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๐ SIMILAR VOLUMES
Mosaicism for a balanced reciprocal translocation is uncommon. These two new cases were detected during investigation of infertility and miscarriages. Otherwise, the probands were normal. Of five previously described cases, only one was possibly syndromal. More reports of this class of chromosomal a
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