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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 that has been realized previously.
C Cunniff, and
K L Jones, and
K Benirschke
January 1964,
Transactions of the New England Obstetrical and Gynecological Society,
C Cunniff, and
K L Jones, and
K Benirschke
April 1992,
Human genetics,
C Cunniff, and
K L Jones, and
K Benirschke
July 1977,
Obstetrics and gynecology,
C Cunniff, and
K L Jones, and
K Benirschke
January 1967,
Acta paediatrica Scandinavica,
C Cunniff, and
K L Jones, and
K Benirschke
August 1967,
Sbornik lekarsky,
C Cunniff, and
K L Jones, and
K Benirschke
January 1973,
Ugeskrift for laeger,
C Cunniff, and
K L Jones, and
K Benirschke
January 2005,
Cytogenetic and genome research,
C Cunniff, and
K L Jones, and
K Benirschke
October 2010,
Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology,
C Cunniff, and
K L Jones, and
K Benirschke
February 1962,
Folia endocrinologica; mensile di incretologia e incretoterapia,
C Cunniff, and
K L Jones, and
K Benirschke
September 1981,
Acta endocrinologica,
