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Case Reports
. 1976 Jun;24(2):95-112.

[A case of Turner's syndrome in 45,X/46,XXp- mosaicism associated with colour-blindness (author's transl)]

[Article in French]
S Ferrier, L Crippa, C Cabrol, G Pescia
  • PMID: 1085812
Case Reports

[A case of Turner's syndrome in 45,X/46,XXp- mosaicism associated with colour-blindness (author's transl)]

[Article in French]
S Ferrier et al. 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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