Abstract
We report a male neonate with a 45 X karyotype; the long arm of a chromosome 15 was translocated onto the proximal long arm of the Y chromosome. Breakpoints were identified by in situ fluorescence hybridization (FISH) on the proximal 15q13 and Yq11.2. The derivative chromosome has no primary centromere. Clinical features were compatible with Prader-Willi syndrome. This is the first report case of monosomy 15q and Yq deletion with Prader-Willi syndrome.
Original language | English (US) |
---|---|
Pages (from-to) | 417-421 |
Number of pages | 5 |
Journal | Genetic Counseling |
Volume | 18 |
Issue number | 4 |
State | Published - 2007 |
All Science Journal Classification (ASJC) codes
- Genetics(clinical)
Keywords
- Neonate
- Partial monosomy 15q
- Prader-Willi syndrome
- Y/autosomal translocation
- Yq deletion