Ovarian dysgenesis in individuals with chromosomal abnormalities

Christopher M Cunniff, K. L. Jones, K. Benirschke

Research output: Contribution to journalArticle

41 Citations (Scopus)

Abstract

To understand better the pathogenesis of ovarian dysgenesis in individuals with abnormalities such as 45,X Turner syndrome, trisomy 13, and trisomy 18, we have examined microscopically the ovaries of 36 infants with a number of chromosomal abnormalities confirmed by karyotype analysis. All infants with trisomy 13, trisomy 18, triploidy, and 45,X were found to have severe ovarian dysgenesis characterized by a virtual absence of primary oocytes. The ovaries of individuals with 21 trisomy and of those with partial deletion or duplication of an autosome demonstrated variable findings, which ranged from complete absence of oocytes to a mild diminution of oocyte numbers. The results of this study suggest that the attrition of germ cells in these infants is a result of faulty meiotic pairing and that ovarian dysgenesis is a more frequent finding in children with karyotypic abnormalities than has been realized previously.

Original languageEnglish (US)
Pages (from-to)552-556
Number of pages5
JournalHuman Genetics
Volume86
Issue number6
StatePublished - 1991
Externally publishedYes

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Chromosome Aberrations
Oocytes
Ovary
Triploidy
Turner Syndrome
Down Syndrome
Karyotype
Germ Cells
Trisomy 18
Trisomy 13 syndrome

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Ovarian dysgenesis in individuals with chromosomal abnormalities. / Cunniff, Christopher M; Jones, K. L.; Benirschke, K.

In: Human Genetics, Vol. 86, No. 6, 1991, p. 552-556.

Research output: Contribution to journalArticle

Cunniff, CM, Jones, KL & Benirschke, K 1991, 'Ovarian dysgenesis in individuals with chromosomal abnormalities', Human Genetics, vol. 86, no. 6, pp. 552-556.
Cunniff, Christopher M ; Jones, K. L. ; Benirschke, K. / Ovarian dysgenesis in individuals with chromosomal abnormalities. In: Human Genetics. 1991 ; Vol. 86, No. 6. pp. 552-556.
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