Rodrigues M A, Morgade L F, Dias L F A, Moreira R V, Maia P D, Sales A F H, Ribeiro P D
XY Diagnose Laboratório de Biotecnologia, , Brasil
UTI Neonatal Nicola Albano, , Brasil.
Genet Mol Res. 2017 Sep 27;16(3):gmr-16-03-gmr.16039780. doi: 10.4238/gmr16039780.
Double aneuploidy is considered a rare phenomenon. Herein, we describe a case of double aneuploidy 48,XXY,+21 in a neonate with congenital heart defects. The 28-day-old neonate male (23-year-old mother and 24-year-old father) was admitted to a neonatal intensive care unit owing to congenital heart disease. Echocardiography showed a complete atrioventricular septal defect with Rastelli type B and significant left ventricular failure, moderate atrioventricular valve regurgitation, right-sided heart failure, and preserved systolic function. Cytogenetic analysis of the newborn showed double aneuploidy 48,XXY,+21. The maternal karyotype was 46,XX,inv(9)(p11q13) and the paternal was 46,XY. Characteristics associated with Down syndrome are observed in newborns; on the other hand, children under 10 months of age and neonates may show little or no signs of the Klinefelter syndrome. According to this study, there seem to be differences between the frequency of congenital heart disease among patients with Down-Klinefelter and Down syndrome. At about 11 months of age, the child died after undergoing heart surgeries. The early cytogenetic study is important for better diagnosis and management of the disease.
双非整倍体被认为是一种罕见现象。在此，我们描述了一例患有先天性心脏缺陷的新生儿出现48,XXY,+21双非整倍体的病例。这名28日龄的男婴（母亲23岁，父亲24岁）因先天性心脏病入住新生儿重症监护病房。超声心动图显示为B型完全性房室间隔缺损，伴有严重的左心室衰竭、中度房室瓣反流、右心衰竭，收缩功能保留。对该新生儿的细胞遗传学分析显示为48,XXY,+21双非整倍体。母亲的核型为46,XX,inv(9)(p11q13)，父亲的核型为46,XY。在新生儿中观察到了与唐氏综合征相关的特征；另一方面，10个月以下的儿童和新生儿可能几乎没有或没有克兰费尔特综合征的迹象。根据这项研究，唐氏-克兰费尔特综合征患者与唐氏综合征患者先天性心脏病的发生率似乎存在差异。大约11个月大时，该患儿在接受心脏手术后死亡。早期的细胞遗传学研究对于更好地诊断和治疗该疾病很重要。
