Rico S, Skinner C, Lechuga J L, Fernández E, Serrano J, Casanova M, Argemí J, López A, Castro J M
An Esp Pediatr. 1980 Jan;13(1):71-80.
Authors describe the clinical, pathological and cytogenetic data of a polymalformed premature with a complete a triploidy 69,XXY). This rare condition (30 cases in the literature) may be suspected in a premature with broad posterior fontanella, eye and ear anomalies, syndactily between IV and III fingers/toes, intersexual status and mielomeningocele. Frequently the placenta presents a molar or micromolar degeneration.
作者描述了一名患有完全性三倍体(69,XXY)的多发畸形早产儿的临床、病理和细胞遗传学数据。这种罕见情况(文献中有30例)可能在具有宽大后囟、眼耳异常、第三和第四指/趾并指、两性畸形状态和脊髓脊膜膨出的早产儿中被怀疑。胎盘常呈现出葡萄胎或微葡萄胎样变性。