Double trisomy (48,XXY,+21) in monozygotic twins: case report and review of the literature

Dimitrios Iliopoulos , George Poultsides , Vasiliki Peristeri , Georgia Kouri , Alexandros Andreou , Nikolaos Voyiatzis
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引用次数: 30

Abstract

The occurrence of double aneuploidy in the same individual is a relatively rare phenomenon. We describe twin newborns with typical clinical features of Down’s syndrome, of which one revealed 48,XXY,+21 GTG-band karyotype. The second newborn died 2 days after its birth, and was clinically diagnosed having Down syndrome. Due to the same clinical features of the twins, the common placenta and amniotic sac, we speculate that they were monozygotics and as a result the second newborn should also be a Klinefelter. The purpose of this report is to present a rare case of possible coincidence of double aneuploidy in newborn twins. A review of the literature showed that double trisomy (48,XXY,+21) in a twin newborn infant has never occurred.

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单卵双胞胎双三体(48,XXY,+21):病例报告及文献复习
在同一个体中出现双非整倍体是一种相对罕见的现象。我们描述了具有唐氏综合征典型临床特征的双胞胎新生儿,其中一个显示48,XXY,+21 gtg -带核型。第二个新生儿出生2天后死亡,临床诊断为唐氏综合征。由于双胞胎的临床特征相同,有共同的胎盘和羊膜囊,我们推测他们是同卵,因此第二个新生儿也应该是克氏胎。本报告的目的是提出一个罕见的情况下,可能的巧合双非整倍体在新生双胞胎。文献回顾显示,双胞胎新生儿中从未发生过双三体(48,XXY,+21)。
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