Prenatal diagnosis of concomitant distal 5q duplication and terminal 10q deletion in a fetus with intrauterine growth restriction, congenital diaphragmatic hernia and congenital heart defects.
OBJECTIVE
We present prenatal diagnosis of concomitant distal 5q duplication and terminal 10q deletion in a fetus with intrauterine growth restriction (IUGR), congenital diaphragmatic hernia (CDH) and congenital heart defects (CHD).


CASE REPORT
A 34-year-old, gravida 4, para 2, woman was referred for amniocentesis at 21 weeks of gestation because of advanced maternal age and IUGR. There was no congenital malformation in the family. Amniocentesis revealed a derivative chromosome 10 with an additional maternal on the terminal region of 10q. Array comparative genomic hybridization (aCGH) analysis on the DNA extracted from the cultured amniocytes revealed a result of arr 5q31.3q35.5 (142, 548, 354-180,696,806) × 3.0, arr 10q26.3 (132, 932, 808-135,434,178) × 1.0 [GRCh37 (hg19)] with a 2.50-Mb deletion of 10q26.3 encompassing 19 [Online Mendelian Inheritance in Man (OMIM)] genes and a 38.15-Mb duplication of 5q31.3-q35.5 encompassing 195 OMIM genes including four CDH candidate genes of NDST1, ADAM19, NSD1 and MAML1. The mother was found to have a karyotype of 46,XX,t(5; 10) (q31.3; q26.3). Therefore, the fetal karyotype was 46,XX,der(10)t(5; 10)(q31.3; q26.3)mat. Prenatal ultrasound showed IUGR, right CDH, transposition of great artery, double outlet of right ventricle and right atrial isomerism. The pregnancy was terminated, and a malformed fetus was delivered with facial dysmorphism.


CONCLUSION
Fetuses with concomitant distal 5q duplication and terminal 10q deletion may present IUGR, CDH and CHD on prenatal ultrasound.
['Chen|Chih-Ping|CP|', 'Huang|Jian-Pei|JP|', 'Chen|Shin-Wen|SW|', 'Chern|Schu-Rern|SR|', 'Wu|Peih-Shan|PS|', 'Wu|Fang-Tzu|FT|', 'Chen|Wen-Lin|WL|', 'Chen|Li-Feng|LF|', 'Wang|Wayseen|W|']
D000328:Adult D000649:Amniocentesis D000748:Anemia, Macrocytic D002872:Chromosome Deletion D002879:Chromosomes, Human, Pair 10 D002895:Chromosomes, Human, Pair 5 D055028:Comparative Genomic Hybridization D005260:Female D005317:Fetal Growth Retardation D006330:Heart Defects, Congenital D065630:Hernias, Diaphragmatic, Congenital D006801:Humans D009006:Monosomy D011247:Pregnancy
5q duplication 10q deletion Intrauterine growth restriction Congenital diaphragmatic hernia Congenital heart defects