de novo unbalanced translocation resulting in monosomy for distal 5p (5p14.1 → pter) and 14q (14q32.31 → qter) associated with fetal nuchal edema, microcephaly, intrauterine growth restriction, and single umbilical artery: prenatal diagnosis and molecular cytogenetic characterization
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2013
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Abstract
Objective: To present prenatal diagnosis of partial monosomy 5p (5p14.1 → pter) and partial monosomy 14q (14q32.31 → qter).
Materials and Methods: 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.
Results: 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.
Conclusion: Concomitant occurrence of monosomy for distal 5p and distal 14q my present nuchal edema, microcephaly, IUGR, and single umbilical artery on prenatal ultrasound.
| Reference Key |
chen2013taiwanesede
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| Authors | ;Chih-Ping Chen;Chung-Hu Fu;Schu-Rern Chern;Peih-Shan Wu;Jun-Wei Su;Chen-Chi Lee;Meng-Shan Lee;Wayseen Wang |
| Journal | spermova |
| Year | 2013 |
| DOI |
10.1016/j.tjog.2013.06.005
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