Costa Mailén, Ávila Silvia
Servicio de Genética, Hospital Provincial Neuquén "Dr. Eduardo Castro Rendón", provincia de Neuquén, Argentina.
Arch Argent Pediatr. 2017 Oct 1;115(5):e282-e286. doi: 10.5546/aap.2017.e282.
The co-existence of a double chromosomal abnormality in one individual is a rare event, even more the simultaneous presence of Klinefelter (XXY) and Edwards (trisomy 18) syndrome. The aim of this article is to report the case of a newborn with a double aneuploidy, which consists in the coexistence of Edwards and Klinefelter syndrome. The patient's phenotype correlates mainly with Edwards syndrome. The diagnosis is made by performing the cytogenetics (karyotype) of peripheral blood lymphocytes. Only 15 cases of patients with Klinefelter and Edwards syndromes had been reported in literature so far.
一个个体同时存在双重染色体异常是罕见事件，更罕见的是克兰费尔特综合征（XXY）和爱德华兹综合征（18三体综合征）同时出现。本文旨在报告一例患有双重非整倍体的新生儿病例，即爱德华兹综合征和克兰费尔特综合征并存。患者的表型主要与爱德华兹综合征相关。通过对外周血淋巴细胞进行细胞遗传学检查（核型分析）来做出诊断。迄今为止，文献中仅报道了15例患有克兰费尔特综合征和爱德华兹综合征的患者。
