Abstract
We report a family in which a woman with the mosaic karyotype 45,X/46,X,del(X)(p21.2) transmitted the deleted X chromosome to two daughters. The nature of the deletion was confirmed by fluorescent in situ hybridization (FISH). All three family members showed somatic Ullrich-Turner syndrome features, but only one daughter had ovarian failure. These observations have implications for the diagnosis of Ullrich-Turner syndrome and genotype/phenotype correlations of X chromosome deletions.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Abnormalities, Multiple / genetics*
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Adult
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Child
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Chromosome Aberrations / genetics*
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Chromosome Aberrations / physiopathology
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Chromosome Deletion*
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Chromosome Disorders
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Disease Susceptibility
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Dwarfism / genetics
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Female
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Humans
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In Situ Hybridization, Fluorescence
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Karyotyping
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Menopause, Premature / genetics*
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Mosaicism / genetics*
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Otitis Media / etiology
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Ovary / physiopathology*
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Phenotype
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Recurrence
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Turner Syndrome / diagnosis
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Turner Syndrome / genetics*
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X Chromosome / genetics
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X Chromosome / ultrastructure*