Article
Unbalanced translocation in an adult patient with premature ovarian failure and mental retardation detected by spectral karyotyping and array-comparative genomic hybridization.
European journal of clinical investigation - 1 Aug 2009
Guo Q S, Qin S Y, Zhou S F, He L, Ma D, Zhang Y P, Xiong Y, Peng T, Cheng Y, Li X T
Abstract excerpt
BACKGROUND: There are only three cases of unbalanced translocation (X;1) reported in childhood in the literature, while no such phenotypic information is available in adults. MATERIALS AND METHODS: To delineate the phenotype-genotype relationship of unbalanced translocation (X;1) in adulthood, we reported here a 20-year-old female with an unbalanced translocation (X;1) which was determined by spectral...
Topics
- Adult
- Chromosomes, Human, X
- Female
- Gene Deletion
- Humans
- In Situ Hybridization, Fluorescence
- Intellectual Disability
- Phenotype
- Primary Ovarian Insufficiency
- Spectral Karyotyping