Partial trisomy of 11 and 22 due to familial translocation t(11;22) (q23;q11), inherited in three generations
Partial trisomy of 11 and 22 due to familial translocation t(11;22) (q23;q11), inherited in three generations
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由于家族易位 t(11;22) (q23;q11)，导致 11 和 22 部分三体性，遗传三代
DOI：
10.1007/bf00283408
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发表时间：
1979
期刊：
影响因子：
5.3
通讯作者：
Y. Kuroki
中科院分区：
文献类型：
--
作者：
H. Nakai;Yoshifumi Yamamoto;Y. Kuroki
报告1例1岁女童，部分三体分别为11(q23→QTER)和22(Pter→Q11)。她有严重的智力低下、腭裂、先天性心脏病、先天性髋关节脱位等畸形，通过G和R显带方法，从一个家族性易位中鉴定出额外的顶粒染色体为der(22)，t(11；22)(q23；q11)。母亲和外祖父是RCP(11；22)(q23；q11)平衡易位的携带者，讨论了部分三体11和22的表型特征与核型的可能关系。
A 1-year-old girl with partial trisomy of 11 (q23→qter) and 22 (pter→q11) is presented. She had severe mental retardation, cleft palate, congenital heart disease, congenital dislocation of the hip, and other anomalies.The extra acrocentric chromosome was identified as der(22),t(11;22) (q23;q11) from a familial translocation and by G-and R-banding methods. The mother and the maternal grandfather were carriers of balanced rcp(11;22) (q23;q11) translocations.The possible relations between phenotypic features and the karyotypes of partial trisomy 11 and 22 are discussed.