Alpha-thalassemia mental retardation syndrome
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Alpha-thalassemia mental retardation syndrome (ATRX), also called alpha-thalassemia X-linked mental retardation, nondeletion type or ATR-X syndrome, 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.
It is associated with ATRX.
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- Alpha-Thalassemia - GeneReviews™ - NCBI Bookshelf
Summary. Disease characteristics. Alpha-thalassemia (α-thalassemia) has two clinically significant forms: hemoglobin Bart hydrops fetalis (Hb Bart) syndrome and ... - Alpha and beta thalassemia. - National Center for Biotechnology ...
1. Am Fam Physician. 2009 Aug 15;80(4):339-44. Alpha and beta thalassemia. Muncie HL Jr, Campbell J. Louisiana State University Health Sciences Center, New Orleans ... - Hb H disease: clinical course and disease modifiers.
1. Hematology Am Soc Hematol Educ Program. 2009:26-34. doi: 10.1182/asheducation-2009.1.26. Hb H disease: clinical course and disease modifiers. - Alpha-thalassaemia. - National Center for Biotechnology Information
1. Orphanet J Rare Dis. 2010 May 28;5:13. doi: 10.1186/1750-1172-5-13. Alpha-thalassaemia. Harteveld CL, Higgs DR. 1Department of Human and Clinical Genetics, Leiden ... - HBA2 hemoglobin, alpha 2 [Homo sapiens (human)]
The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 ... - Sickle hemoglobin (HbS) allele and sickle cell disease: a HuGE review.
1. Am J Epidemiol. 2000 May 1;151(9):839-45. Sickle hemoglobin (HbS) allele and sickle cell disease: a HuGE review. Ashley-Koch A, Yang Q, Olney RS. - Thalassemia - National Library of Medicine - PubMed Health
Thalassemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form of hemoglobin, the protein in red blood ... - Genetic syndromes caused by mutations in epigenetic genes.
1. Hum Genet. 2013 Apr;132(4):359-83. doi: 10.1007/s00439-013-1271-x. Epub 2013 Jan 31. Genetic syndromes caused by mutations in epigenetic genes. - HBB hemoglobin, beta [Homo sapiens (human)]
The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in adult hemoglobin, Hb A. The normal adult hemoglobin tetramer ... - MECP2 Duplication Syndrome - GeneReviews™ - NCBI Bookshelf
NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health. Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews™ [Internet].
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