| Autor: |
Sundareshan TS; Kuwait Medical Genetics Centre, Maternity Hospital, Safat., Naguib KK, al-Awadi SA, Redha MA, Hamoud MS |
| Jazyk: |
angličtina |
| Zdroj: |
American journal of medical genetics [Am J Med Genet] 1990 May; Vol. 36 (1), pp. 7-10. |
| DOI: |
10.1002/ajmg.1320360103 |
| Abstrakt: |
We report on apparently nonmosaic trisomy 22 in a liveborn girl with multiple congenital anomalies. The abnormalities were growth retardation; microcephaly; hypertelorism; epicanthic folds; anti-mongoloid slant; apparently low-set, malformed ears; highly arched, cleft palate; short webbed neck; and hypoplastic nails. The extra 22 was found to be of maternal origin by chromosome polymorphism. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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