由于母源复杂染色体重排的邻接-2分离导致的16号染色体短臂至16q12.1三体以及22号染色体短臂至22q11.2单体。
Trisomy 16pter to 16q12.1 and monosomy 22pter to 22q11.2 resulting from adjacent-2 segregation of a maternal complex chromosome rearrangement.
作者信息
Xu J, Chernos J, Roland B
机构信息
Cytogenetics Laboratory, Alberta Children's Hospital, Calgary, Canada.
出版信息
Am J Med Genet. 1997 Dec 19;73(3):327-9.
We report on a 16-week-old male fetus with partial trisomy 16 and partial monosomy 22 resulting from 3:3 adjacent-2 segregation of a maternal balanced complex chromosome translocation involving chromosomes 5, 16, and 22. The karyotype of the 29-year-old phenotypically normal mother was 46,XX,t(5;16;22)(q31.3;q12.1;q11.2). The karyotype of the fetus was 46,XY,der (5)t(5;16;22)(q31.3;q12.1;q11.2),+der(16) t(5;16;22)mat,-22. The fetus had multiple congenital anomalies, including bilateral cleft lip and palate.
我们报告了一例16周龄男性胎儿，其因母亲涉及5号、16号和22号染色体的平衡复杂染色体易位的3:3相邻-2分离，导致16号染色体部分三体和22号染色体部分单体。这位29岁表型正常母亲的核型为46,XX,t(5;16;22)(q31.3;q12.1;q11.2)。胎儿的核型为46,XY,der (5)t(5;16;22)(q31.3;q12.1;q11.2),+der(16) t(5;16;22)mat,-22。该胎儿有多种先天性异常，包括双侧唇腭裂。
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