Clinical and hematologic aspects of the X‐linked α‐thalassemia/mental retardation syndrome (ATR‐X)
- 30 January 1995
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 55 (3), 288-299
- https://doi.org/10.1002/ajmg.1320550309
Abstract
The hallmarks of the X‐linked α‐thalassemia/mental retardation (ATR‐X) syndrome are severe psychomotor retardation, minor facial anomalies, genital abnormalities, and an unusual form of α‐thalassemia. The demonstration of HbH inclusions in red blood cells after incubation with brilliant cresyl blue confirms the diagnosis. We describe 15 previously unreported cases and analyse the phenotypic and hematologic findings in these subjects and compare them with previously published cases. This study demonstrates the consistency of the main characteristics of this syndrome and extends the phenotype. Developmental changes in phenotype, in particular the coarsening of the facial appearance, are illustrated. The hematologic findings are shown to vary widely; in some cases the manifestation of α‐thalassemia may be subtle and missed without repeated examination.Keywords
This publication has 10 references indexed in Scilit:
- X‐linked α‐thalassemia/mental retardation (ATR‐X) syndrome: A new kindred with severe genital anomalies and mild hematologic expressionAmerican Journal of Medical Genetics, 1995
- Alpha thalassaemia mental retardation (ATR-X): an atypical family.Archives of Disease in Childhood, 1994
- X linked mental retardation with non-deletional alpha thalassaemia (ATR-X): further delineation of the phenotype.Journal of Medical Genetics, 1994
- Alpha-thalassemia/mental retardation syndrome often confused with other disordersAmerican Journal of Medical Genetics, 1992
- Alpha thalassaemia/mental retardation syndrome (non-deletional type): report of a family supporting X linked inheritance.Journal of Medical Genetics, 1991
- X linked alpha thalassaemia/mental retardation: spectrum of clinical features in three related males.Journal of Medical Genetics, 1991
- The non-deletion alpha thalassaemia/mental retardation syndrome: further support for X linkage.Journal of Medical Genetics, 1991
- Occurrence of the alpha thalassaemia-mental retardation syndrome (non-deletional type) in an Australian male.Journal of Medical Genetics, 1990
- Unknown syndrome. A possible new X linked retardation syndrome: dysmorphic facies, microcephaly, hypotonia, and small genitalia.Journal of Medical Genetics, 1990