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).


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.


CONCLUSIONS
Concomitant occurrence of monosomy for distal 5p and distal 14q my present nuchal edema, microcephaly, IUGR, and single umbilical artery on prenatal ultrasound.
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. Electronic address: cpc_mmh@yahoo.com.
Chih-Ping
CP
Chen
Chung-Hu
CH
Fu
Schu-Rern
SR
Chern
Peih-Shan
PS
Wu
Jun-Wei
JW
Su
Chen-Chi
CC
Lee
Meng-Shan
MS
Lee
Wayseen
W
Wang
D000328:Adult; D000649:Amniocentesis; D002883:Chromosomes, Human, Pair 14; D002895:Chromosomes, Human, Pair 5; D003410:Cri-du-Chat Syndrome / Q000175:diagnosis*; D004487:Edema / Q000000981:diagnostic imaging / Q000235:genetics; D005260:Female; D005317:Fetal Growth Retardation / Q000000981:diagnostic imaging / Q000235:genetics*; D055106:Genome-Wide Association Study; D006801:Humans; D008831:Microcephaly / Q000000981:diagnostic imaging / Q000235:genetics*; D011247:Pregnancy; D058529:Single Umbilical Artery / Q000000981:diagnostic imaging / Q000235:genetics*; D014178:Translocation, Genetic; D016216:Ultrasonography, Prenatal
14q deletion; 5p deletion; microcephaly; nuchal edema; single umbilical artery