X linked alpha thalassaemia/mental retardation: spectrum of clinical features in three related males.
We describe three males (two brothers and a cousin) who have the X linked alpha thalassaemia/mental retardation (ATR-X) syndrome. The diagnosis, originally suspected in the brothers because of similarity in dysmorphic features to previous cases, was confirmed haematologically in the surviving brothe...
| Main Authors: | , , , |
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| Format: | Journal article |
| Language: | English |
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1991
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| _version_ | 1797099348246396928 |
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| author | Wilkie, A Gibbons, R Higgs, D Pembrey, M |
| author_facet | Wilkie, A Gibbons, R Higgs, D Pembrey, M |
| author_sort | Wilkie, A |
| collection | OXFORD |
| description | We describe three males (two brothers and a cousin) who have the X linked alpha thalassaemia/mental retardation (ATR-X) syndrome. The diagnosis, originally suspected in the brothers because of similarity in dysmorphic features to previous cases, was confirmed haematologically in the surviving brother. The cousin has less typical dysmorphism and a virtually normal routine blood count, but haemoglobin H inclusions were found in his red blood cells showing that he has the same condition. This report expands the clinical phenotype of the ATR-X syndrome and emphasises that a normal blood count does not exclude the diagnosis. |
| first_indexed | 2024-03-07T05:22:33Z |
| format | Journal article |
| id | oxford-uuid:df6a9b80-d900-44c0-9c47-5f578a3b2bc8 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T05:22:33Z |
| publishDate | 1991 |
| record_format | dspace |
| spelling | oxford-uuid:df6a9b80-d900-44c0-9c47-5f578a3b2bc82022-03-27T09:39:13ZX linked alpha thalassaemia/mental retardation: spectrum of clinical features in three related males.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:df6a9b80-d900-44c0-9c47-5f578a3b2bc8EnglishSymplectic Elements at Oxford1991Wilkie, AGibbons, RHiggs, DPembrey, MWe describe three males (two brothers and a cousin) who have the X linked alpha thalassaemia/mental retardation (ATR-X) syndrome. The diagnosis, originally suspected in the brothers because of similarity in dysmorphic features to previous cases, was confirmed haematologically in the surviving brother. The cousin has less typical dysmorphism and a virtually normal routine blood count, but haemoglobin H inclusions were found in his red blood cells showing that he has the same condition. This report expands the clinical phenotype of the ATR-X syndrome and emphasises that a normal blood count does not exclude the diagnosis. |
| spellingShingle | Wilkie, A Gibbons, R Higgs, D Pembrey, M X linked alpha thalassaemia/mental retardation: spectrum of clinical features in three related males. |
| title | X linked alpha thalassaemia/mental retardation: spectrum of clinical features in three related males. |
| title_full | X linked alpha thalassaemia/mental retardation: spectrum of clinical features in three related males. |
| title_fullStr | X linked alpha thalassaemia/mental retardation: spectrum of clinical features in three related males. |
| title_full_unstemmed | X linked alpha thalassaemia/mental retardation: spectrum of clinical features in three related males. |
| title_short | X linked alpha thalassaemia/mental retardation: spectrum of clinical features in three related males. |
| title_sort | x linked alpha thalassaemia mental retardation spectrum of clinical features in three related males |
| work_keys_str_mv | AT wilkiea xlinkedalphathalassaemiamentalretardationspectrumofclinicalfeaturesinthreerelatedmales AT gibbonsr xlinkedalphathalassaemiamentalretardationspectrumofclinicalfeaturesinthreerelatedmales AT higgsd xlinkedalphathalassaemiamentalretardationspectrumofclinicalfeaturesinthreerelatedmales AT pembreym xlinkedalphathalassaemiamentalretardationspectrumofclinicalfeaturesinthreerelatedmales |