6q部分三体综合征，源于母亲的平衡易位（6；22）（q21；p13）或（q21；pter） 。
Partial trisomy 6q, due to balanced maternal translocation (6;22) (q21; p13) or (q21; pter).
作者信息
Stamberg J, Shapiro J, Valle D, Kuhajda F P, Thomas G, Wissow L
出版信息
Clin Genet. 1981 Feb;19(2):122-5. doi: 10.1111/j.1399-0004.1981.tb00681.x.
Abstract
We report a stillborn infant with partial trisomy 6q who had several major congenital malformations not previously associated with the chromosomal aberration. These included occipital encephalocele, ambiguous genitalia with imperforate anus, omphalocele and unilateral hydronephrosis. The infant's karyotype was 46,XY,-22,der(22),t(6;22)(q21; p13) or (q21;pter)mat. The mother and maternal grandmother are balanced translocation carriers.
摘要
我们报告了一名6q部分三体的死产婴儿，其患有几种先前未与该染色体畸变相关的主要先天性畸形。这些畸形包括枕部脑膨出、伴有肛门闭锁的两性畸形、脐膨出和单侧肾积水。婴儿的核型为46,XY,-22,der(22),t(6;22)(q21;p13)或(q21;pter)mat。母亲和外祖母是平衡易位携带者。
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