In-frame deletion inMECP2 causes mild nonspecific mental retardation
β Scribed by Yntema, Helger G. ;Oudakker, Astrid R. ;Kleefstra, Tjitske ;Hamel, Ben C.J. ;van Bokhoven, Hans ;Chelly, Jamel ;Kalscheuer, Vera M. ;Fryns, Jean-Pierre ;Raynaud, Martine ;Moizard, Marie-Pierre ;Moraine, Claude
- Book ID
- 101442829
- Publisher
- John Wiley and Sons
- Year
- 2002
- Tongue
- English
- Weight
- 107 KB
- Volume
- 107
- Category
- Article
- ISSN
- 0148-7299
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We report on a girl with a large interstitial deletion of the long arm of chromosome 21 and with mild mental retardation, congenital hypothyroidism, and hyperopia. The deletion [de1(21)(q11.1-q22.1)1 extends molecularly from marker D21S215 to D21S213. The distal breakpoint is not clearly defined but