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  • Title: Turner phenotype in mother and daughter.
    Author: Muasher S, Baramki TA, Diggs ES.
    Journal: Obstet Gynecol; 1980 Dec; 56(6):752-6. PubMed ID: 7443121.
    Abstract:
    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.
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