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題名 | Phenotype Ⅱ Triploid Pregnancy and Study of the Parental Origin of the Extra Set of Chromosomes with Fluorescence Microsatellite Analysis: Case Report=第二型三套體懷孕及螢光微衛星分析其來源:病例報告 |
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作者姓名(中文) | 張舜智; 朱大成; 陳定平; 林博彥; 宋永魁; | 書刊名 | 長庚醫學 |
卷期 | 24:4 2001.04[民90.04] |
頁次 | 頁258-262 |
分類號 | 417.132 |
關鍵詞 | 生長遲滯; 三套體; 螢光微衛星分析; 第一期減數分裂無分離; Intrauterine growth retardation; Triploidy; Fluorescence microsatellite analysis; Meiosis I nondisjunction; |
語文 | 英文(English) |
英文摘要 | Triploidy can reflect diandry (dispermy or diploid sperm) or digyny(diploid ovum). The former is likely to result in the type I phenotype with a partial mole with an appropriate-for-gestational age fetus rarely surviving beyond 20 weeks and a large, cystic placenta. The latter, however, is characterized by a type II phenotype with severe intrauterine growth retardation (IUGR) with longer in utero survival and a small, non-molar placenta. We report on a 22-year-old woman, gravida 2, para1, in the 31st week of gestation who was referred to our prenatal clinic for evaluation of severe IUGR and oligohydramnios. Late cytogenetic karyotyping from cordocentesis revealed a triploidy of 69,XXX. In the 33rd week of gestation, the mother went through spontaneous labor delivering an IUGR 1180 gm fetus and a small, non-molar placenta. The fetus died immediately and was sent for autopsy. In addition to cleft lip and palate, the infant had pulmonary lobation abnormalities. Fluorescence microsatellite analysis of fetal and parental samples confirmed that the extra set of chromosomes present in the proband was a result of a maternal meiosis I nondisjunction error. This may help study of genomic imprinting on human development. (Chang Gung Med J 2001; 24:258-62) |
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