Three boys from two families were identified as having a syndrome of X-linked mental retardation (XLMR) with microcephaly and short stature, clinically resembling Renpenning syndrome but with normal size of testicles in affected men. When the effort to map the gene for the above condition was initia
X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family
β Scribed by Hilde Van Esch; Ginevra Zanni; Maureen Holvoet; Martine Borghgraef; Jamel Chelly; Jean-Pierre Fryns; Koenraad Devriendt
- Book ID
- 116432770
- Publisher
- Elsevier Science
- Year
- 2005
- Tongue
- English
- Weight
- 262 KB
- Volume
- 48
- Category
- Article
- ISSN
- 1769-7212
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π SIMILAR VOLUMES
Linkage analysis was performed in a family with non-specific X-linked mental retardation (MRX 15). Hypotonia in infancy was the most remarkable physical manifestation. The severity of mental deficiency was variable among the patients, but all of them had poor or absent speech. Significant lod scores
A syndrome of microcephaly, progressive postnatal growth deficiency, and mental retardation was observed in two brothers and their cousin from a multiply consanguineous kindred of Lebanese descent. Hypotonia, chorioretinal dystrophy, and myopia were also identified. The severity of the condition var