Alpha-thalassemia mental retardation syndrome
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(Redirected from X-linked alpha thalassemia mental retardation syndrome)
| Alpha-thalassemia mental retardation syndrome | |
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| Classification and external resources | |
 Child of 8 yrs with the characteristic facial features of ATR-X syndrome. Note the upswept frontal hair line, hypertelorism, epicanthic folds, flat nasal bridge, small triangular upturned nose, tented upper lip, everted lower lip and hypotonic facies. |
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| OMIM | 301040 |
Alpha-thalassemia mental retardation syndrome (ATRX), also called alpha-thalassemia X-linked mental retardation, nondeletion type or ATR-X syndrome,[1] is a condition caused by a mutated gene. Females with this mutated gene have no specific signs or features, but may demonstrate skewed X chromosome inactivation. Hemizygous males tend to be moderately mentally retarded and have physical characteristics including coarse facial features, microcephaly (small head size), hypertelorism (widely spaced eyes), a depressed nasal bridge, a tented upper lip, and an everted lower lip.[2]
It is associated with ATRX.[3]
External links [edit]
- GeneReviews/NCBI/NIH/UW entry on Alpha-Thalassemia X-Linked Mental Retardation Syndrome; ATRX Syndrome; Alpha Thalassemia/Mental Retardation, X-Linked; XLMR-Hypotonic Face Syndrome
- OMIM entries on Alpha-Thalassemia X-Linked Mental Retardation Syndrome
References [edit]
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 301040
- ^ Robert J. Gorlin, Meyer Michael Cohen, Raoul C. M. Hennekam (2001). Syndromes of the Head and Neck . Oxford University Press. p. 986. ISBN 0-19-511861-8.
- ^ Medina CF, Mazerolle C, Wang Y, et al. (March 2009). "Altered visual function and interneuron survival in Atrx knockout mice: inference for the human syndrome". Hum. Mol. Genet. 18 (5): 966–77. doi:10.1093/hmg/ddn424. PMID 19088125.
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