A duplication/deficient X chromosome in a girl with mental retardation and dysmorphic features.
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.
Barnes
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Centre for Human Genetics, Sheffield.
Curtis
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Duncan
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SL
D000293:Adolescent; D001827:Body Height; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002872:Chromosome Deletion; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D006059:Gonadal Dysgenesis / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D012886:Skull / Q000002:abnormalities*; D014960:X Chromosome