Mechanism of intrachromosomal triplications 15q11-q13: A new clinical report
✍ Scribed by Vialard, François ;Mignon-Ravix, Cécile ;Parain, Dominique ;Depetris, Danielle ;Portnoï, Marie-France ;Moirot, Hélène ;Mattei, Marie-Geneviève
- Publisher
- John Wiley and Sons
- Year
- 2003
- Tongue
- English
- Weight
- 192 KB
- Volume
- 118A
- Category
- Article
- ISSN
- 0148-7299
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A female fetus with brain malformations, multicystic kidneys, absence of the right thumb, and a posterior cleft of palate was delivered at 32 weeks of gestation. Cytogenetic studies including FISH showed a novel intrachromosomal triplication of the proximal long arm of chromosome 2 (q11.2-q21), resu
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