一名患有多种先天性异常的活产婴儿出现22号染色体三体。
Trisomy 22 in a liveborn infant with multiple congenital anomalies.
作者信息
McPherson E, Stetka D G
机构信息
Capital Area Permanente Medical Group, Springfield, Virginia.
出版信息
Am J Med Genet. 1990 May;36(1):11-4. doi: 10.1002/ajmg.1320360104.
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.
我们报告了第三例经确认的活产婴儿22三体综合征病例。高分辨率染色体显带研究排除了诸如相对常见的t(11;22)等易位情况。该婴儿与其他已报告的22三体综合征病例有许多共同表现（如生长发育迟缓、小头畸形、小颌畸形、耳部畸形、腭裂和先天性心脏缺陷），也与22号染色体重复有一些共同表现。22三体综合征似乎会导致一种严重的畸形综合征，足月存活很罕见。
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