| Autor: |
Pecile V; Servizio di Genetica, Istituto per l'Infanzia, Trieste, Italy., Petroni MG, Fertz MC, Filippi G |
| Jazyk: |
angličtina |
| Zdroj: |
Clinical genetics [Clin Genet] 1990 Apr; Vol. 37 (4), pp. 271-8. |
| DOI: |
10.1111/j.1399-0004.1990.tb04189.x |
| Abstrakt: |
A terminal deletion in the short arm of chromosome 8 was found in a 2.5-year-old boy: 46,XY,del(8) (p22.0) and in a 1-year-old girl: 46,XX,del(8) (p23.1) with dysmorphic craniofacial features and developmental retardation. Erythrocyte GSR activities of the boy and of his parents were within normal limits. Vitamin K dependent coagulation factors in the girl and her parents gave normal results. Clinical findings were compared with previously reported cases and suggested a recognizable syndrome. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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