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

Publication ,  Journal Article
Quigley, DI; McDonald, MT; Krishnamuthy, V; Kishnani, PS; Lee, MM; Haqq, AM; Goodman, BK
Published in: Am J Med Genet A
October 1, 2005
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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.

Duke Scholars

Marie Theresa McDonald
Author Marie Theresa McDonald Pediatrics, Medical Genetics
Priya Sunil Kishnani
Author Priya Sunil Kishnani Pediatrics, Medical Genetics

Published In

Am J Med Genet A

DOI

10.1002/ajmg.a.30943

ISSN

1552-4825

Publication Date

October 1, 2005

Volume

138A

Issue

2

Start / End Page

171 / 174

Location

United States

Related Subject Headings

  • Sex Chromosome Aberrations
  • Mosaicism
  • Male
  • Karyotyping
  • Infant
  • In Situ Hybridization, Fluorescence
  • Humans
  • Genitalia, Male
  • Fingers
  • Aneuploidy
 

Citation

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MLA
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Quigley, D. I., McDonald, M. T., Krishnamuthy, V., Kishnani, P. S., Lee, M. M., Haqq, A. M., & Goodman, B. K. (2005). Triploid mosaicism in a 45,X/69,XXY infant. Am J Med Genet A, 138A(2), 171–174. https://doi.org/10.1002/ajmg.a.30943
Quigley, Denise I., Marie T. McDonald, Vidya Krishnamuthy, Priya S. Kishnani, Mary M. Lee, Andrea M. Haqq, and Barbara K. Goodman. “Triploid mosaicism in a 45,X/69,XXY infant.” Am J Med Genet A 138A, no. 2 (October 1, 2005): 171–74. https://doi.org/10.1002/ajmg.a.30943.
Quigley DI, McDonald MT, Krishnamuthy V, Kishnani PS, Lee MM, Haqq AM, et al. Triploid mosaicism in a 45,X/69,XXY infant. Am J Med Genet A. 2005 Oct 1;138A(2):171–4.
Quigley, Denise I., et al. “Triploid mosaicism in a 45,X/69,XXY infant.” Am J Med Genet A, vol. 138A, no. 2, Oct. 2005, pp. 171–74. Pubmed, doi:10.1002/ajmg.a.30943.
Quigley DI, McDonald MT, Krishnamuthy V, Kishnani PS, Lee MM, Haqq AM, Goodman BK. Triploid mosaicism in a 45,X/69,XXY infant. Am J Med Genet A. 2005 Oct 1;138A(2):171–174.
Journal cover image

Published In

Am J Med Genet A

DOI

10.1002/ajmg.a.30943

ISSN

1552-4825

Publication Date

October 1, 2005

Volume

138A

Issue

2

Start / End Page

171 / 174

Location

United States

Related Subject Headings

  • Sex Chromosome Aberrations
  • Mosaicism
  • Male
  • Karyotyping
  • Infant
  • In Situ Hybridization, Fluorescence
  • Humans
  • Genitalia, Male
  • Fingers
  • Aneuploidy