Cetin Z, Mihci E, Keser I, Karaali K, Berker S, Luleci G
Department of Medical Biology, School of Medicine, Akdeniz University, Antalya, Turkey.
Genet Couns. 2012;23(2):239-47.
We report, a newborn presenting multiple congenital abnormalities with karyotype; 47,XY,der(7)t(6;7)(pter-p23::p15-->qter),+der(9)t(7;9)(pter-->p15::q21.2--> pter)t(6;7;9)(p23;p15;q21.2)mat[20]. The mother and her phenotypically normal daughter were carriers of a complex chromosomal rearrangement with karyotypes; 46,XX,t(6;7;9)(p23;p15;q21.2)[20]. Paternal chromosomes were normal. In our case the extra derivative chromosome was the result of a 4:2 segregation of the chromosomes involved in translocation during oogenesis. Double partial trisomy in newborns resulting from 4:2 segregation is a rare event, and double partial trisomies of the 6p23-pter and trisomy 9pter-q22 regions have not reported to date.
我们报告了一名患有多种先天性异常的新生儿，其核型为：47,XY,der(7)t(6;7)(pter-p23::p15-->qter),+der(9)t(7;9)(pter-->p15::q21.2--> pter)t(6;7;9)(p23;p15;q21.2)mat[20]。母亲及其表型正常的女儿是一种复杂染色体重排的携带者，核型为：46,XX,t(6;7;9)(p23;p15;q21.2)[20]。父亲的染色体正常。在我们的病例中，额外的衍生染色体是卵子发生过程中涉及易位的染色体4:2分离的结果。由4:2分离导致的新生儿双部分三体是一种罕见事件，6p23 - pter和9号染色体pter - q22区域的双部分三体迄今为止尚未见报道。
