22号染色体部分三体：一种可识别的综合征。
Partial trisomy 22: a recognizable syndrome.
作者信息
Garlinger P, McGeary S A, Magenis E
出版信息
Clin Genet. 1977 Jul;12(1):9-16. doi: 10.1111/j.1399-0004.1977.tb00895.x.
Abstract
A patient identified as being a partial trisomy 22 mosaic is presented. The presence of a translocation t(4;22) (pter;q12) is noted in the mother, sister and maternal aunt. Comparison is made with nine other reported cases of partial trisomy 22 confirmed by parental translocation. These suggest a definite syndrome, including mental retardation, congenital heart disease, skeletal anomalies, anti-mongoloid slant of the palpebral fissures, preauricular skin tags and low-set ears.
摘要
本文报告了一例被鉴定为22号染色体部分三体嵌合体的患者。在母亲、姐姐和外祖母中发现存在t(4;22)(pter;q12)易位。并与其他9例经父母易位证实的22号染色体部分三体的报告病例进行了比较。这些病例提示了一种明确的综合征，包括智力发育迟缓、先天性心脏病、骨骼异常、睑裂反蒙古样倾斜、耳前皮肤赘生物和低位耳。
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