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  • Title: [Detection of sex-chromosome anomalies in newborn infants (author's transl)].
    Author: Wagenbichler P, Golob E.
    Journal: Wien Klin Wochenschr; 1975 Feb 21; 87(4):126-30. PubMed ID: 1130080.
    Abstract:
    6084 consecutive newborn infants were screened for the purpose of evaluation of the X- and Y-chromatin in the cells of the buccal mucosa to detect sex-chromosome anomalies. An anomaly was discovered in 14 newborn infants (0.23%). Among 3184 male infants 8 cases of Klinefelter's syndrome, 2 cases of XYY syndrome and 1 case of a rare structural anomaly of the Y-chromosome were detected. Among 2900 female infants there was 1 child with Turner's syndrome and 2 children with the Triplo-X syndrome. The following clinical features were frequently observed: low birth weight, small size, dystrophy, signs of dysmaturity and increased maternal age. A gonosomal anomaly should be suspected in all cases presenting these characteristic clinical features and the necessary investigations carried out. By these means X-chromosome aberrations, at least, could be partly diagnosed.
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