Trisomy 22 in a liveborn infant with multiple congenital anomalies.
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.
McPherson
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Capital Area Permanente Medical Group, Springfield, Virginia.
Stetka
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D000015:Abnormalities, Multiple / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22; D002972:Cleft Palate / Q000235:genetics; D004431:Ear, External / Q000002:abnormalities; D006130:Growth Disorders / Q000235:genetics; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D008831:Microcephaly / Q000235:genetics; D008844:Micrognathism / Q000235:genetics; D014314:Trisomy