Case Reports
[A case of Turner's syndrome in 45,X/46,XXp- mosaicism associated with colour-blindness (author's transl)]
[Article in
French]
- PMID: 1085812
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Case Reports
[A case of Turner's syndrome in 45,X/46,XXp- mosaicism associated with colour-blindness (author's transl)]
[Article in
French]
J Genet Hum.
1976 Jun.
Abstract
We have reported the study of a young girl aged 19 suffering from a gonadal dysgenesis the chromosomal complement of which is 45,X/46,XXp-. The analysis of the transmission of Xg group was insufficient to demonstrate with certainty the origin of the pathological X. The tests indicating the ability to discriminate colours (Ishihara's test and anomaloscopy) showed a protanopia, probably of paternal origin. Hence, the Xp- probably comes from the mother.
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