Sperm rates of 7q11.23, 15q11q13 and 22q11.2 deletions and duplications: a FISH approach
β Scribed by Oscar Molina; Ester Anton; Francesca Vidal; Joan Blanco
- Book ID
- 106135054
- Publisher
- Springer
- Year
- 2010
- Tongue
- English
- Weight
- 560 KB
- Volume
- 129
- Category
- Article
- ISSN
- 0340-6717
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## Abstract We report on the clinical and cytogenetic findings and on the arrayβbased characterization of an interstitial 7q11.21βq11.23 deletion initially recognized by standard karyotyping in a 15βmonthβold female patient. Beginning at the age of 3 months and 2 weeks the patient had severe infant
D u p l i c a t i o n s o f c h r o m o s o m e r e g i o n 15q11q13 often occur as a supernumerary chromosome 15. Less frequently they occur as interstitial duplications [dup(15)]. We describe the clinical and molecular characteristics of three patients with de novo dup(15). The patients, two males