Triploid mosaicism in a 45,X/69,XXY infant

UMMS Affiliation

Department of Pediatrics; Department of Cell Biology



Document Type


Medical Subject Headings

Abnormalities, Multiple; *Aneuploidy; Fingers; Genitalia, Male; Humans; In Situ Hybridization, Fluorescence; Infant; Karyotyping; Male; *Mosaicism; *Sex Chromosome Aberrations


Cell Biology


We report on an infant referred for chromosome analysis during the neonatal period due to ambiguous genitalia. The genitalia appeared male with bilaterally palpable testes, penoscrotal hypospadias, chordee, and a bifid scrotum. Chromosome analysis and interphase FISH analysis of lymphocytes showed a 45,X karyotype and no evidence for SRY in 200 nuclei examined, respectively. Subsequent chromosome analysis of fibroblasts revealed a 69,XXY karyotype. Molecular studies were carried out to determine the etiology of the chromosome findings. Results indicated that the two cell lines are mosaic rather than chimeric and that the triploidy resulted from delayed dispermy rather than delayed polar body inclusion. To our knowledge this is the first reported living individual with (near) diploid/triploid mosaicism for 45,X/69,XXY.

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Citation: Am J Med Genet A. 2005 Oct 1;138A(2):171-4. Link to article on publisher's site

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