- 期刊
三套染色體(69, XXX)活産兒：一病例報告
A Liveborn Infant With Triploidy (69, XXX): Report of One Case
摘要
人類三套染色體(triploidy)受孕之機會並不少，但多於懷孕早期即流産，因此三套染色體活産兒極爲罕見。本文報告一三套染色體(69, XXX)活産女嬰，其臨床表征包括生長民主黨滯(growth retardation)、頭與身體不相稱(head-to -body disproportion)、大的後囪門、眼距過寬(hypertelorism)、小頷畸形(micrognathia)、雙側耳前息肉(preauricular polyps)、左手三、四指併指、右手二、三指併指及馬蹄內翻足(talipes equinovarus)。該女嬰於出生後4小時死亡，死後病理解剖發現有大血管轉位(transposition of great vessels)、心室 中隔缺損、左肺一肺葉、右肺葉及十二指腸閉鎖(duodenal atresia)。
並列摘要
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.