α-thalassemia/mental retardation syndrome in a 45,X male
✍ Scribed by Richard Kellermayer; Márta Czakó; Zsuzsanna Kiss-László; Petra Gyuris; Adrienn Kozári; Béla Melegh; György Kosztolányi
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 92 KB
- Volume
- 132A
- Category
- Article
- ISSN
- 1552-4825
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Results of cytogenetic studies, performed in a group of 201 institutionalized mentally retarded males, are presented. At least two cytogenetic methods for eliciting the Xq27.3 fragile site, recommended by the Fourth International Workshop on the Fra X Syndrome were used. A subgroup of 67 out of 201
X-linked alpha-thalassemia/mental retardation syndrome (ATR-X) is a syndromic form of X-linked mental retardation. We investigated the X-inactivation status of nine female ATR-X carriers by methylation-specific PCR of the HUMARA gene. Six carriers demonstrated a skewed X-inactivation pattern (>90:10