The No. 18 trisomy syndrome
| Autor: | Eeva Therman, Stanley L. Inhorn, David W. Smith, Klaus Patau |
|---|---|
| Rok vydání: | 1962 |
| Předmět: |
Pathology
medicine.medical_specialty business.industry Sporadic occurrence Chromosome Trisomy Index finger medicine.disease Early infancy Chromosomes Small mandible Congenital Abnormalities Malformed ears medicine.anatomical_structure Pediatrics Perinatology and Child Health Failure to thrive medicine Humans medicine.symptom Chromosomes Human Pair 18 business |
| Zdroj: | The Journal of Pediatrics. 60:513-527 |
| ISSN: | 0022-3476 |
| DOI: | 10.1016/s0022-3476(62)80112-7 |
| Popis: | Summary Trisomy of chromosome No. 18 results in a characteristic pattern of multiple congenital anomalies of which apparent mental retardation with moderate hypertonicity, lowset malformed ears, small mandible, flexion of the fingers with the index finger overlying the third, and severe failure to thrive constitute the most prominent clinical abnormalities. It usually leads to death in early infancy. The syndrome has been of sporadic occurrence. Its frequency increases with advancing maternal age. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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