| Autor: |
Klep-de Pater, J M, Bijlsma, J B, Alkema, F M |
| Zdroj: |
European Journal of Pediatrics; 1981, Vol. 137 Issue 2, p243-246, 4p |
| Abstrakt: |
A 7 year-old girl is described with a de novo deletion of the short arm of chromosome 10 (qter p13:). The clinical features of: mental retardation, a large asymmetric head, antimongoloid slant, exophthalmos, epicanthus, ptosis, abnormal ears, pectus excavatum and widely spaced nipples are compared with those of five earlier reported cases with a deletion 10p. The data available suggest the existence of a clinically recognizable monosomy 10p syndrome. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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