一名患有头面正中畸形的46,XY,del(18)(pter至p1 100:）患儿，其父母一方核型为正常的46,XX,t(12;18)(18pter至18 p 1100:: 12qter至12pter) 。
A 46,XY, del(18)(pter leads to p1 100:) cebocephalic child from a 46,XX,t(12;18)(18pter leads to 18 p 1100:: 12qter leads to 12pter) normal parent.
作者信息
Johnson G, Bachman R
出版信息
Hum Genet. 1976 Sep 10;34(1):103-6. doi: 10.1007/BF00284446.
PMID:964998
Abstract
A normal female with an 18p--chromosome but without any feature of the 18p--syndrome produced a cebocephalic child whose karyotype included an 18p--chromosome. Evidence is presented that the normal female is a nonreciprocal translocation heterozygote resulting from the short arm of one chromosome 18 becoming attached to the long arm of a chromosome 12.
摘要
一名正常女性带有一条18号染色体短臂缺失（18p–）染色体，但无18p–综合征的任何特征，她生下了一个头面部畸形儿，其核型包含一条18p–染色体。有证据表明，该正常女性是一个非相互易位杂合子，是由一条18号染色体的短臂附着到一条12号染色体的长臂上所致。
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