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.
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.
['Chen|Chih-Ping|CP|', 'Fu|Chung-Hu|CH|', 'Chern|Schu-Rern|SR|', 'Wu|Peih-Shan|PS|', 'Su|Jun-Wei|JW|', 'Lee|Chen-Chi|CC|', 'Lee|Meng-Shan|MS|', 'Wang|Wayseen|W|']
D000328:Adult D000649:Amniocentesis D002883:Chromosomes, Human, Pair 14 D002895:Chromosomes, Human, Pair 5 D003410:Cri-du-Chat Syndrome D004487:Edema D005260:Female D005317:Fetal Growth Retardation D055106:Genome-Wide Association Study D006801:Humans D008831:Microcephaly D011247:Pregnancy D058529:Single Umbilical Artery D014178:Translocation, Genetic D016216:Ultrasonography, Prenatal
nuchal edema microcephaly single umbilical artery 14q deletion 5p deletion