Journal of Medical Genetics · 1988 · 13 citations · 5 references
Life SciencesGeneticsMolecular GeneticsCytogeneticsHuman GeneticsMedical GeneticsChromosomal AbnormalitiesChromosomal DisordersGenetic DisordersGonadal DisordersNumerical Chromosome AbnormalitiesStructural Chromosome Abnormalities46, Xx Gonadal Dysgenesis46, Xy Gonadal DysgenesisDuplication SyndromesPhenotype-genotype CorrelationTall Stature Genetics
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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Familial X/X translocation:t(X;X)(p22;q13)
H.J. Kim, L Y Hsu, Kurt Hirschhorn · Cytogenetics and Cell Genetics · 2008 · 33 citations
The phenotypic effects of small, distal Xq deletions
Carolyn Trunca, Eeva Therman, Z. Rosenwaks · Human Genetics · 1984 · 32 citations