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

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Quigley, DI; McDonald, MT; Krishnamuthy, V; Kishnani, PS; Lee, MM; Haqq, AM; Goodman, BK

Published Date

  • October 1, 2005

Published In

Volume / Issue

  • 138A / 2

Start / End Page

  • 171 - 174

PubMed ID

  • 16152633

International Standard Serial Number (ISSN)

  • 1552-4825

Digital Object Identifier (DOI)

  • 10.1002/ajmg.a.30943


  • eng

Conference Location

  • United States