Kim Young-Mi, Cho Eun-Hee, Kim Jin-Mi, Lee Moon-Hee, Park So-Yeon, Ryu Hyun-Mee
Laboratory of Medical Genetics, Samsung Cheil Hospital and Women's Healthcare Center, Medical Research Institute, Seoul, Korea.
Prenat Diagn. 2004 Mar;24(3):161-4. doi: 10.1002/pd.741.
We report a de novo translocation between chromosome 15 and 18 resulting in monosomy 18p in prenatal diagnosis. The patient was referred for amniocentesis due to increased nuchal translucency (INT) (5 mm) at 13.6 weeks of gestation. Karyotype of the fetus revealed 45,XX,der(15;18)(q10;q10) in all metaphases. The targeted fetal ultrasound at 20 weeks of gestation did not show any special physical abnormalities other than 6.4 mm of nuchal fold thickness. Molecular cytogenetic findings using CGH and FISH confirmed the del(18p) with dicentromeres from both chromosome 15 and 18. The present study shows that the INT at first trimester was the only prenatal finding for the fetus with del(18p) syndrome and that molecular cytogenetic methods are useful for detecting chromosomal aberrations precisely.
我们报告了一例在产前诊断中发生的15号和18号染色体之间的新生易位，导致18p单体。该患者因孕13.6周时颈部半透明带（NT）增厚（5mm）而接受羊水穿刺检查。胎儿的核型显示所有中期细胞均为45,XX,der(15;18)(q10;q10)。孕20周时的针对性胎儿超声检查除了颈部褶皱厚度为6.4mm外，未显示任何特殊的身体异常。使用比较基因组杂交（CGH）和荧光原位杂交（FISH）的分子细胞遗传学结果证实了存在来自15号和18号染色体的双着丝粒的18p缺失。本研究表明，孕早期的NT增厚是18p缺失综合征胎儿唯一的产前发现，并且分子细胞遗传学方法有助于精确检测染色体畸变。
