Unstable translocations: a new case?
โ Scribed by T. Mattina; G. Milana; A. D'Agata; L. Conti; F. Sciacca
- Book ID
- 115090158
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 139 KB
- Volume
- 39
- Category
- Article
- ISSN
- 0009-9163
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Two sisters presented with multiple congenital abnormalities and developmental delay; abnormalities elsewhere in their extended family suggested that their father carried a balanced translocation. G-banded chromosome analysis showed apparently normal karyotypes. Fluorescence in situ hybridisation (F
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