High rates of de novo 15q11q13 inversions in human spermatozoa
✍ Scribed by Òscar Molina; Ester Anton; Francesca Vidal; Joan Blanco
- Book ID
- 115024442
- Publisher
- BioMed Central
- Year
- 2012
- Tongue
- English
- Weight
- 733 KB
- Volume
- 5
- Category
- Article
- ISSN
- 1755-8166
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We describe a 17-year-old girl with mild Prader-Willi syndrome (PWS) due to 15q11-q13 deletion. The deletion occurred on a paternal chromosome 15 already involved in a translocation, t(Y;15)(q12;p11), the latter being present in five other, phenotypically normal individuals in three generations. Thi
We report the first case of an apparent de novo pericentric inversion of chromosome 2 at the breakpoints p13ql1.2 that was detected prenatally. Follow-up performed over 4 years showed phenotypic abnormalities including minor craniofacial dysmorphism, hypotonia, hearing loss, gustatory flushing syndr