Interstitial deletion of the long arm of chromosome 1 [del(1)(q32q42)]
| Autor: | S. A. Al-Awadi, T. I. Farag, R. Usha, M. Y. El-Khalifa, T. S. Sundareshan, S. A. Al-Othman, John M. Opitz, James F. Reynolds |
|---|---|
| Rok vydání: | 1986 |
| Předmět: |
Microcephaly
Single umbilical artery Chromosomes Human 1-3 Infant Newborn Short neck Anatomy Biology medicine.disease Encephalocele Chromosome Banding otorhinolaryngologic diseases medicine Abnormal cry Humans Abnormalities Multiple Female Hypertelorism medicine.symptom Chromosome Deletion Esotropia Genetics (clinical) Prominent nose |
| Zdroj: | American journal of medical genetics. 23(4) |
| ISSN: | 0148-7299 |
| Popis: | A severely malformed girl died 7 days after birth and was found to have de novo interstitial deletion of 1q (1q32----1q42). Clinical abnormalities included microcephaly, encephalocele, small eyes with unilateral esotropia, hypertelorism but small prominent nose, highly arched palate, micrognathia, abnormal cry, apparently abnormal low-set ears, short neck with low posterior hair line, narrow shoulders, congenital heart defect, hypoplastic nails, overlap of toes with flat feet, and single umbilical artery. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text