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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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)
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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)
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