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 that has been realized previously.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Cunniff C,Jones KL,Benirschke Kdoi
10.1007/BF00201540subject
Has Abstractpub_date
1991-04-01 00:00:00pages
552-6issue
6eissn
0340-6717issn
1432-1203journal_volume
86pub_type
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