A duplication/deficient X chromosome in a girl with mental retardation and dysmorphic features. Issue 4 (April 1988)

• Record Type: Journal Article
• Authors: Barnes, I C; Curtis, D; Duncan, S L
• Is Part Of: Journal of medical genetics. Volume 25:Issue 4(1988)
• Page Start: 264
• Page End: 267
• Publication Date: 1988-04
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.25.4.264
• Languages: English
• ISSNs: 1468-6244

Abstract

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.