Skip to main content

XY sex reversal and gonadal dysgenesis due to 9p24 monosomy.

Publication ,  Journal Article
McDonald, MT; Flejter, W; Sheldon, S; Putzi, MJ; Gorski, JL
Published in: Am J Med Genet
December 19, 1997

We describe a case of XY sex reversal, gonadal dysgenesis, and gonadoblastoma in a patient with a deletion of 9p24 due to a familial translocation. The rearranged chromosome 9 was inherited from the father; the patient's karyotype was 46,XY,der(9)t(8;9) (p21;p24)pat. A review shows that 6 additional patients with 46,XY sex reversal associated with monosomy of the distal short arm of chromosome 9 have been observed. The observation that all 7 patients with sex reversal share a deletion of the distal short arm of chromosome 9 is consistent with the hypothesis that the region 9p24 contains a gene or genes necessary for male sex determination. This present case narrows the chromosome interval containing a critical sex determination gene to the relatively small region 9p24. A molecular analysis of this region will provide a means to identify a gene involved in male sex determination.

Duke Scholars

Published In

Am J Med Genet

ISSN

0148-7299

Publication Date

December 19, 1997

Volume

73

Issue

3

Start / End Page

321 / 326

Location

United States

Related Subject Headings

  • Sex Determination Analysis
  • Monosomy
  • Infant
  • Humans
  • Gonadoblastoma
  • Gonadal Dysgenesis, 46,XY
  • Female
  • Disorders of Sex Development
  • Chromosomes, Human, Pair 9
  • 3202 Clinical sciences
 

Citation

APA
Chicago
ICMJE
MLA
NLM
McDonald, M. T., Flejter, W., Sheldon, S., Putzi, M. J., & Gorski, J. L. (1997). XY sex reversal and gonadal dysgenesis due to 9p24 monosomy. Am J Med Genet, 73(3), 321–326.
McDonald, M. T., W. Flejter, S. Sheldon, M. J. Putzi, and J. L. Gorski. “XY sex reversal and gonadal dysgenesis due to 9p24 monosomy.Am J Med Genet 73, no. 3 (December 19, 1997): 321–26.
McDonald MT, Flejter W, Sheldon S, Putzi MJ, Gorski JL. XY sex reversal and gonadal dysgenesis due to 9p24 monosomy. Am J Med Genet. 1997 Dec 19;73(3):321–6.
McDonald, M. T., et al. “XY sex reversal and gonadal dysgenesis due to 9p24 monosomy.Am J Med Genet, vol. 73, no. 3, Dec. 1997, pp. 321–26.
McDonald MT, Flejter W, Sheldon S, Putzi MJ, Gorski JL. XY sex reversal and gonadal dysgenesis due to 9p24 monosomy. Am J Med Genet. 1997 Dec 19;73(3):321–326.

Published In

Am J Med Genet

ISSN

0148-7299

Publication Date

December 19, 1997

Volume

73

Issue

3

Start / End Page

321 / 326

Location

United States

Related Subject Headings

  • Sex Determination Analysis
  • Monosomy
  • Infant
  • Humans
  • Gonadoblastoma
  • Gonadal Dysgenesis, 46,XY
  • Female
  • Disorders of Sex Development
  • Chromosomes, Human, Pair 9
  • 3202 Clinical sciences