一名女孩出现“纯合性”21号染色体单体性，其染色体核型为pter至q21，该女孩的父母核型分别为46,XX,t(14;21)(p12;q22)和46,XY,t(5;18)(q32;q22)。
"Pure" monosomy 21 pter leads to q21 in a girl born to a couple 46,XX,t(14;21)(p12;q22) and 46,XY,t(5;18)(q32;q22).
作者信息
Rivera H, Rivas F, Plascencia L, Cantú J M
出版信息
Ann Genet. 1983;26(4):234-7.
PMID:6607704
Abstract
A two-year-old girl with a "pure" 21pter leads to q21 monosomy secondary to a 3:1 segregation of a maternal translocation t(14;21)(p12;q22) is described. The father's karyotype was 46,XY,t(5;18)(q32;q22). This observation permits to further delineate the 21q proximal monosomy syndrome and to comment the very rare finding of a couple in which both partners have different reciprocal translocations.
摘要
本文描述了一名两岁女童，其因母亲14号与21号染色体相互易位t(14;21)(p12;q22)呈3:1分离，导致“纯合性”21号染色体短臂末端至21q21片段单体性。父亲的核型为46,XY,t(5;18)(q32;q22)。该观察结果有助于进一步明确21q近端单体综合征，并对夫妻双方均有不同相互易位这一极为罕见的发现进行讨论。
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