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Turner phenotype in mother and daughter.

Publication ,  Journal Article
Muasher, S; Baramki, TA; Diggs, ES
Published in: Obstet Gynecol
December 1980

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.

Duke Scholars

Published In

Obstet Gynecol

ISSN

0029-7844

Publication Date

December 1980

Volume

56

Issue

6

Start / End Page

752 / 756

Location

United States

Related Subject Headings

  • X Chromosome
  • Turner Syndrome
  • Sexual Maturation
  • Sex Chromatin
  • Phenotype
  • Obstetrics & Reproductive Medicine
  • Karyotyping
  • Humans
  • Genetic Counseling
  • Female
 

Citation

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MLA
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Muasher, S., Baramki, T. A., & Diggs, E. S. (1980). Turner phenotype in mother and daughter. Obstet Gynecol, 56(6), 752–756.
Muasher, S., T. A. Baramki, and E. S. Diggs. “Turner phenotype in mother and daughter.Obstet Gynecol 56, no. 6 (December 1980): 752–56.
Muasher S, Baramki TA, Diggs ES. Turner phenotype in mother and daughter. Obstet Gynecol. 1980 Dec;56(6):752–6.
Muasher, S., et al. “Turner phenotype in mother and daughter.Obstet Gynecol, vol. 56, no. 6, Dec. 1980, pp. 752–56.
Muasher S, Baramki TA, Diggs ES. Turner phenotype in mother and daughter. Obstet Gynecol. 1980 Dec;56(6):752–756.
Journal cover image

Published In

Obstet Gynecol

ISSN

0029-7844

Publication Date

December 1980

Volume

56

Issue

6

Start / End Page

752 / 756

Location

United States

Related Subject Headings

  • X Chromosome
  • Turner Syndrome
  • Sexual Maturation
  • Sex Chromatin
  • Phenotype
  • Obstetrics & Reproductive Medicine
  • Karyotyping
  • Humans
  • Genetic Counseling
  • Female