Trisomy 22 in a liveborn infant with multiple congenital anomalies
- 30 April 1990
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 36 (1) , 11-14
- https://doi.org/10.1002/ajmg.1320360104
Abstract
We report on the third confirmed case of trisomy 22 in a liveborn infant. High‐resolution banding studies ruled out translocations such as the relatively common t(11;22). The infant shared many manifestations with other reported cases of trisomy 22 (e.g., growth deficiency, microcephaly, micrognathia, ear malformations, cleft palate, and congenital heart defect) and some manifestations in common with dup 22. Trisomy 22 appears to cause a severe malformation syndrome, and survival to term is rare.Keywords
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