X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: a new kindred with severe genital anomalies and mild hematologic expression.
We report a new kindred containing 4 patients with X-linked alpha-thalassemia/mental retardation syndrome ((ATR-X). Like previously reported ATR-X patients, these children are all genetic males with severe developmental delay and characteristic facial appearance. The genital anomalies are more sever...
| Main Authors: | , , , |
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| Format: | Journal article |
| Language: | English |
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1995
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| _version_ | 1797062770560073728 |
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| author | McPherson, E Clemens, M Gibbons, R Higgs, D |
| author_facet | McPherson, E Clemens, M Gibbons, R Higgs, D |
| author_sort | McPherson, E |
| collection | OXFORD |
| description | We report a new kindred containing 4 patients with X-linked alpha-thalassemia/mental retardation syndrome ((ATR-X). Like previously reported ATR-X patients, these children are all genetic males with severe developmental delay and characteristic facial appearance. The genital anomalies are more severe than in most previous cases and have led to a female sex of rearing for 3 of the 4 patients. The hematologic expression is extremely mild and was not demonstrable on routine hematologic studies including hemoglobin electrophoresis, but the three living patients all had hemoglobin H inclusions on brilliant cresyl blue stained peripheral smears. The combination of skewed X-inactivation and haplotype analysis at Xq12-q21.3 confirmed carrier status in the 3 obligate carriers in the kindred and led to identification of an additional carrier. Two other women in the kindred appear to be noncarriers on the basis of normal X-inactivation and/or inheritance of a different Xq12-21.3 haplotype. More widespread use of brilliant cresyl blue staining for HbH inclusions in individuals with the facial phenotype of ATR-X and/or ambiguous genitalia may lead to the identification of more affected patients and improved understanding of the clinical spectrum of ATR-X. |
| first_indexed | 2024-03-06T20:50:19Z |
| format | Journal article |
| id | oxford-uuid:37550cf1-7a88-4b5f-9c72-1e81cdce2b80 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-06T20:50:19Z |
| publishDate | 1995 |
| record_format | dspace |
| spelling | oxford-uuid:37550cf1-7a88-4b5f-9c72-1e81cdce2b802022-03-26T13:43:29ZX-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: a new kindred with severe genital anomalies and mild hematologic expression.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:37550cf1-7a88-4b5f-9c72-1e81cdce2b80EnglishSymplectic Elements at Oxford1995McPherson, EClemens, MGibbons, RHiggs, DWe report a new kindred containing 4 patients with X-linked alpha-thalassemia/mental retardation syndrome ((ATR-X). Like previously reported ATR-X patients, these children are all genetic males with severe developmental delay and characteristic facial appearance. The genital anomalies are more severe than in most previous cases and have led to a female sex of rearing for 3 of the 4 patients. The hematologic expression is extremely mild and was not demonstrable on routine hematologic studies including hemoglobin electrophoresis, but the three living patients all had hemoglobin H inclusions on brilliant cresyl blue stained peripheral smears. The combination of skewed X-inactivation and haplotype analysis at Xq12-q21.3 confirmed carrier status in the 3 obligate carriers in the kindred and led to identification of an additional carrier. Two other women in the kindred appear to be noncarriers on the basis of normal X-inactivation and/or inheritance of a different Xq12-21.3 haplotype. More widespread use of brilliant cresyl blue staining for HbH inclusions in individuals with the facial phenotype of ATR-X and/or ambiguous genitalia may lead to the identification of more affected patients and improved understanding of the clinical spectrum of ATR-X. |
| spellingShingle | McPherson, E Clemens, M Gibbons, R Higgs, D X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: a new kindred with severe genital anomalies and mild hematologic expression. |
| title | X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: a new kindred with severe genital anomalies and mild hematologic expression. |
| title_full | X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: a new kindred with severe genital anomalies and mild hematologic expression. |
| title_fullStr | X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: a new kindred with severe genital anomalies and mild hematologic expression. |
| title_full_unstemmed | X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: a new kindred with severe genital anomalies and mild hematologic expression. |
| title_short | X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: a new kindred with severe genital anomalies and mild hematologic expression. |
| title_sort | x linked alpha thalassemia mental retardation atr x syndrome a new kindred with severe genital anomalies and mild hematologic expression |
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