Literature DB >> 1085812

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

S Ferrier, L Crippa, C Cabrol, G Pescia.   

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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Year:  1976        PMID: 1085812

Source DB:  PubMed          Journal:  J Genet Hum        ISSN: 0021-7743


  1 in total

1.  A case of Turner's syndrome, with apparently normal sex chromatin and chromosome findings.

Authors:  M G Butler; C T Todd; J D Eisen
Journal:  Nebr Med J       Date:  1979-05
  1 in total

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