Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medicine, Mackay Medical College, New Taipei City, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan.
Taiwan J Obstet Gynecol. 2013 Sep;52(3):401-6. doi: 10.1016/j.tjog.2013.06.005.
To present prenatal diagnosis of partial monosomy 5p (5p14.1 → pter) and partial monosomy 14q (14q32.31 → qter).
A 33-year-old woman underwent amniocentesis at 20 weeks of gestation because of abnormal fetal ultrasound. Amniocentesis revealed a dicentric chromosome of dic(5;14). Level II ultrasound at 23 weeks of gestation revealed a fetus with intrauterine growth restriction, microcephaly, nuchal edema, a single umbilical artery, and fetal biometry equivalent to 19 weeks. At 23 weeks of gestation, she requested repeated amniocentesis. Whole-genome array comparative genomic hybridization on uncultured amniocytes was performed. Quantitative fluorescent polymerase chain reaction analysis was performed on uncultured cord blood and parental blood. A fetus was delivered with microcephaly, low-set ears, hypertelorism, depressed nasal bridge, increased nuchal fold, and a single umbilical artery.
The fetal karyotype was 45,XX,dic(5;14)(p14.1;q32.31)dn. Whole-genome array comparative genomic hybridization analysis on uncultured amniocytes detected arr 5p15.33p14.1 (36,238-28,798,509)×1 and arr 14q32.31q32.33 (101,508,967-107,349,540)×1. Quantitative fluorescent polymerase chain reaction assays showed that the aberrant dic(5;14) was from paternal origin.
Concomitant occurrence of monosomy for distal 5p and distal 14q my present nuchal edema, microcephaly, IUGR, and single umbilical artery on prenatal ultrasound.
介绍部分单体 5p（5p14.1→pter）和部分单体 14q（14q32.31→qter）的产前诊断。
一位 33 岁的女性因胎儿超声异常而在 20 周时接受羊膜穿刺术。羊膜穿刺术显示二体型染色体 dic(5;14)。23 周时的二级超声显示胎儿宫内生长受限、小头畸形、颈后水肿、单脐动脉和胎儿生物测量相当于 19 周。在 23 周时，她要求重复羊膜穿刺术。对未培养的羊水细胞进行全基因组微阵列比较基因组杂交，对未培养的脐带血和父母血液进行定量荧光聚合酶链反应分析。分娩出一个小头畸形、低位耳、眼距过宽、鼻梁凹陷、颈后褶皱增加和单脐动脉的胎儿。
胎儿核型为 45,XX,dic(5;14)(p14.1;q32.31)dn。未培养的羊水细胞全基因组微阵列比较基因组杂交分析检测到 arr 5p15.33p14.1(36,238-28,798,509)×1 和 arr 14q32.31q32.33(101,508,967-107,349,540)×1。定量荧光聚合酶链反应检测显示，异常的 dic(5;14)来自父亲。
在产前超声上，5p 远端和 14q 远端单体的同时发生与颈后水肿、小头畸形、宫内生长受限和单脐动脉有关。
