Turner phenotype in mother and daughter.


Journal Article

Two females are described, mother and daughter, who had the Turner phenotype and spontaneous sexual development. The mother is short and had ovulatory menstrual cycles, normal breast development, X-chromatin negative buccal smear, 45,X chromosomal pattern in her peripheral blood lymphocytes, and 45,X/46,X,r(X) mosaicism in her skin, with the majority of the cells (85%) showing X monosomy. She had a successful uncomplicated pregnancy at the age of 25 years. The daughter is short and had spontaneous sexual development, including menstruation at the age of 15 years. Her buccal smear was X-chromatin negative and karyotypes from peripheral blood lymphocytes and skin fibroblasts showed a 45,X chromosome constitution. Her menstrual cycles are irregular and, most probably, anovulatory. She has a horseshoe kidney. Six women with a 45, X chromosome complement are known to have delivered normal infants with no chromosomal abnormality. Five children with 45,X mosaicism have been born to mothers with 45,X mosaicism; all had a 46,XX cell line as well. This is the first report of a 45,X female born to a mother with mosaicism composed of 2 abnormal cell lines, 1 with X monosomy and 1 with a ring X chromosome.

Full Text

Duke Authors

Cited Authors

  • Muasher, S; Baramki, TA; Diggs, ES

Published Date

  • December 1, 1980

Published In

Volume / Issue

  • 56 / 6

Start / End Page

  • 752 - 756

PubMed ID

  • 7443121

Pubmed Central ID

  • 7443121

International Standard Serial Number (ISSN)

  • 0029-7844


  • eng

Conference Location

  • United States