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Article

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

8 Sept 2005

Abstract excerpt

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...

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Identifiers

PMID: 16152633
DOI: 10.1002/ajmg.a.30943

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