A new syndrome with mental retardation, short stature and an Xq duplication
- 1 May 1988
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 30 (1-2) , 239-250
- https://doi.org/10.1002/ajmg.1320300125
Abstract
We describe a new X‐linked syndrome of marked short stature, severe intellectual handicap and an unusual facial appearance. High resolution prometaphase banding showed affected males to have an X chromosome tandem duplication; their karyotypes were designated 46, dup(X)(q13.1–q21.1)Y. In carrier females the abnormal X chromosome was late replicating. To verify the duplication, gene dosage studies were performed using an enzyme assay and DNA techniques. Prenatal diagnosis is available for carrier females using chromosome analysis of amniocytes or chorionic villi.Keywords
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