X-X translocation in a patient with gonadal dysgenesis and the problems of phenotype-karyotype correlations

A sex-chromatin-positive woman without stunted growth, but with primary amenorrhea, and some stigmas of pure gonadal dysgenesis had the chromosome constitution 45,X/46,Xt(X;X)(q27;q27). The abnormal chromosome formed a large Barr body and was late-labeling. The chromosome consisted of two X chromoso...

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Bibliographic Details
Published in:Human genetics 1978-02, Vol.40 (3), p.249-257
Main Authors: Mirzayants, G G, Baranovskaya, L I
Format: Article
Language:English
Subjects:
Adult
Amenorrhea - genetics
Female
Humans
Karyotyping
Phenotype
Sex Chromatin
Sex Chromosomes
Translocation, Genetic
Turner Syndrome - genetics
X Chromosome
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Summary:A sex-chromatin-positive woman without stunted growth, but with primary amenorrhea, and some stigmas of pure gonadal dysgenesis had the chromosome constitution 45,X/46,Xt(X;X)(q27;q27). The abnormal chromosome formed a large Barr body and was late-labeling. The chromosome consisted of two X chromosomes attached by their long arms (end-to-end), both apparently having the partial distal deletion. Both centromeric regions showed C-staining but only one constriction. The chromosome is interpreted as an isodicentric with only one centromere functioning. Some problems of phenotype-karyotype correlations are discussed.
ISSN:0340-6717