## Abstract Nonβsyndromic Xβlinked mental retardation (MRX) is a frequent cause of inherited mental retardation. It is a heterogeneous condition in which the first 12 genes discovered to date explain no more than 15% of the MRX situations ascertained by recurrence in multiplex families. In Rett syn
X inactivation testing for identifying a non-syndromic X-linked mental retardation gene
β Scribed by Hagith Yonath; Dina Marek-Yagel; Haike Resnik-Wolf; Almogit Abu-Horvitz; Hagit N. Baris; Mordechai Shohat; Moshe Frydman; Elon Pras
- Book ID
- 107700472
- Publisher
- Springer-Verlag
- Year
- 2011
- Tongue
- English
- Weight
- 142 KB
- Volume
- 52
- Category
- Article
- ISSN
- 1234-1983
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
## Abstract Isolated mental retardation is clinically and genetically heterogenous and may be inherited in an autosomal dominant, autosomal recessive, or Xβlinked manner. We report here a linkage analysis in a large family including 15 members, 6 of whom presenting Xβlinked nonβsyndromic mental ret
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