Pregnancy outcome in carriers of Robertsonian translocations
โ Scribed by Kathelijn Keymolen; Kim Van Berkel; Anniek Vorsselmans; Catherine Staessen; Inge Liebaers
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 85 KB
- Volume
- 155
- Category
- Article
- ISSN
- 1552-4825
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๐ SIMILAR VOLUMES
## Abstract The karyotypes of 14 patients with Paget's disease of bone were studied. The patients were recruited from our bone metabolism clinic where they received specific therapy for their skeletal disease. Eight of the 14 patients had chromosomal translocations localized to the D and G groups.
We studied the pedigrees of 14 families segregating a reciprocal translocation with one breakpoint in chromosome 17p13 and the other in the distal region of another autosome. All 14 were ascertained on the basis of an affected index case: 13 had Miller-Dieker syndrome (MDS) and one had dup(17p). In