一种复杂的三向易位，导致两名同胞出现3p23----3pter部分三体性。
A complex three way translocation resulting in two sibs with partial trisomy 3p23----3pter.
作者信息
Voss R, Gross-Kieselstein E, Hurvitz H, Dagan J, Kerem E, Zlotogora J
出版信息
J Med Genet. 1984 Dec;21(6):454-9. doi: 10.1136/jmg.21.6.454.
Abstract
A male infant with multiple congenital anomalies and psychomotor retardation was found to have a translocation resulting in partial trisomy for the distal part of chromosome 3p. An older sister with similar clinical findings had an identical karyotype. Chromosome studies in the phenotypically normal parents revealed a balanced translocation in the mother involving chromosomes 3, 11, and 18. An identical translocation was found in one of the normal children.
摘要
一名患有多种先天性异常和精神运动发育迟缓的男婴被发现存在一种易位，导致3号染色体短臂远端部分出现部分三体。一名有类似临床表现的姐姐具有相同的核型。对表型正常的父母进行染色体研究发现，母亲存在涉及3号、11号和18号染色体的平衡易位。在一名正常孩子中也发现了相同的易位。
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