分离出与先证者相关的相互易位（4；21）（q21；q21），先证者部分4q和21三体。
Segregating reciprocal (4;21) (q21;q21) translocation with proposita trisomic for parts of 4q and 21.
作者信息
De la Chapelle A, Koivisto M, Schröder J
出版信息
J Med Genet. 1973 Dec;10(4):384-9. doi: 10.1136/jmg.10.4.384.
The segregation of a balanced reciprocal (4;21)(q21;q21) translocation is described. The family was ascertained through a clinically abnormal proposita with an unbalanced karyotype 47,XX,+der(21),t(4;21)(q21;q21)mat. The proposita was trisomic for regions 4q2, 4q3, 21p, and 21q1. Symptoms that might be attributed to the partial trisomy for parts of 4q were narrow bird face with slanting forehead, prominent nasal bridge and small mandible, downward pointing corners of the mouth, deformed ears, palpebral ptosis, and bushy eyebrows. Similar symptoms occur in other trisomy and deletion syndromes.
本文描述了一例平衡易位（4；21）（q21；q21）的分离情况。该家系通过一名临床异常的先证者确诊，其核型为不平衡型47，XX，+der（21），t（4；21）（q21；q21）mat。先证者在4q2、4q3、21p和21q1区域三体。可能归因于4q部分区域部分三体的症状有窄鸟脸伴前额倾斜、鼻梁突出、下颌小、嘴角向下、耳朵畸形、眼睑下垂和眉毛浓密。其他三体和缺失综合征也会出现类似症状。
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