First cryptic balanced reciprocal translocation mosaicism and familial transmission
✍ Scribed by Celine Dupont; Andree Delahaye; Lydie Burglen; Anne-Claude Tabet; Azzedine Aboura; Samia Kanafani; Françoise Baverel; Thierry Billette de Villemeur; Brigitte Benzacken; Eva Pipiras
- Book ID
- 101449190
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 120 KB
- Volume
- 146A
- Category
- Article
- ISSN
- 1552-4825
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📜 SIMILAR VOLUMES
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
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