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Case Reports
. 1988 Apr;25(4):264-7.
doi: 10.1136/jmg.25.4.264.

A duplication/deficient X chromosome in a girl with mental retardation and dysmorphic features

I C Barnes  1 , D Curtis, S L Duncan
Affiliations
Case Reports

A duplication/deficient X chromosome in a girl with mental retardation and dysmorphic features

I C Barnes et al. J Med Genet. 1988 Apr.

Abstract

A structurally abnormal X chromosome was found in a nine year old girl with mild mental retardation and dysmorphic features. Subsequent clinical examination at 18 years of age showed tall stature and gonadal dysgenesis. Re-examination of her karyotype using a variety of banding techniques on prometaphase chromosomes allowed the identification of the abnormal chromosome as a duplication/deficient X chromosome, 46,Xder X(pter----q28::p11.2----pter). The clinical features are discussed in terms of karyotype/phenotype correlation.

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