[Detection of sex-chromosome anomalies in newborn infants (author's transl)].
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.
D002869:Chromosome Aberrations; D003582:Cytogenetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis*; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000175:diagnosis; D008297:Male; D009061:Mouth Mucosa; D012728:Sex Chromatin; D012729:Sex Chromosome Aberrations / Q000175:diagnosis*; D014424:Turner Syndrome / Q000175:diagnosis
Erfassung von Geschlechtschromosomenanomalien beim Neugeborenen