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人类三倍体的表型。

The phenotype of human triploidy.

作者信息

Leisti J T, Raivio K O, Rapola M H, Saksela E J, Aula P P

出版信息

Birth Defects Orig Artic Ser. 1974;10(4):248-53.

PMID:4470897
Abstract

Triploid infants are born prematurely and usually live less than one day. The triploidy syndrome is characterized by general dysmaturity and the following features: muscular hypotonia; large placenta with frequent hydatidiform changes; large posterior fontanel; low-set dysmorphic auricles; hypertelorism; microphthalmia and colobomata; cutaneous syndactyly of fingers three and four; simian crease; maldeveloped external genitalia; hypospadias; cryptorchidism and Leydigian cell hyperplasia of the testes in XXY males and hypoplastic adrenals.

摘要

三倍体婴儿早产,通常存活时间不到一天。三倍体综合征的特征是全身发育不成熟以及以下表现:肌张力低下;胎盘大且常有葡萄胎样改变;后囟门大;低位畸形耳;眼距过宽;小眼症和缺损;第三、四指皮肤并指;猿掌纹;外生殖器发育不良;尿道下裂;隐睾症以及XXY男性睾丸的莱迪希细胞增生和肾上腺发育不全。

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