三倍体活产婴儿1例(69,XXX)。

Yeh Hy, Shen Sy
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摘要

三倍体并不罕见,在所有已知的人类妊娠中约有1%存在,尽管这些妊娠大多数在前三个月以自然流产告终。胎儿存活到20周或更长时间是罕见的。因此,活产的三倍体婴儿非常罕见。本文报告了一位27岁的健康母亲所生的三倍体活产女婴(69,XXX)。临床表现为生长发育迟缓,头身比例失调,后囟门宽,远端畸形,小颌,双侧耳前息肉,左三、四指并指,右二、三指并指,马蹄内翻足。婴儿在出生4小时后死亡。尸检发现大血管转位,室间隔缺损,左肺1叶,右肺2叶,十二指肠闭锁。
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[A liveborn infant with triploidy (69, XXX): report of one case].
Triploidy is not rare and present in about 1% of all recognized human pregnancies, although most of these pregnancies end in spontaneous abortion during the first trimester. Survival of the fetus up to 20 weeks or beyond is rare. Therefore, liveborn infants with triploidy are very rare. Here is a report on a female liveborn infant with triploidy (69, XXX), who was born to a 27-year-old healthy mother. The clinical features are growth retardation, head-to-body disproportion, wide posterior fontanelle, hypertelorism, micrognathia, bilateral pre-auricular polyps, syndactyly of left 3rd and 4th fingers, syndactyly of right 2nd and 3rd fingers and talipes equinovarus. The infant died 4 hours after birth. The autopsy revealed transposition of great vessels, ventricular septal defect, one lobe of left lung and 2 lobes of right lung and duodenal atresia.
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