[Detection of sex-chromosome anomalies in newborn infants (author's transl)].

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.

• Authors: P Wagenbichler, E Golob
• Journal: Wiener klinische Wochenschrift (Wien Klin Wochenschr) Vol. 87 Issue 4 Pg. 126-30 (Feb 21 1975) ISSN: 0043-5325 [Print] Austria
• Vernacular Title: Erfassung von Geschlechtschromosomenanomalien beim Neugeborenen.
• PMID: 1130080 (Publication Type: English Abstract, Journal Article)

Topics

• Chromosome Aberrations
• Cytogenetics
• Female
• Humans
• Infant, Newborn
• Infant, Newborn, Diseases (diagnosis)
• Karyotyping
• Klinefelter Syndrome (diagnosis)
• Male
• Mouth Mucosa
• Sex Chromatin
• Sex Chromosome Aberrations (diagnosis)
• Turner Syndrome (diagnosis)