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Trisomy 22 in a liveborn infant with multiple congenital anomalies

✍ Scribed by McPherson, Elspeth ;Stetka, Daniel G.

Publisher
John Wiley and Sons
Year
1990
Tongue
English
Weight
381 KB
Volume
36
Category
Article
ISSN
0148-7299

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✦ Synopsis

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.

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