Trisomy 18 in monozygotic twins with discordant phenotypes.
The incidence of trisomy 18 in monozygotic twins is approximately 1 per million. We report a pair of liveborn monozygotic twins with trisomy 18. Both twins had esophageal atresia with tracheoesophageal fistula (type C) and intrauterine growth retardation. Twin A had cleft lip, choanal atresia and perimembranous ventricular septal defect. Twin B had hypoplastic left heart syndrome. The twins died without aggressive intervention at the age of 2 months and 52 hours, respectively. These 2 babies had significantly discordant phenotypes, which suggests an epigenetic or environmental effect. Bioethical considerations remain important in the care of babies with multiple congenital anomalies.
Lee
Jiahn-Te
JT
Department of Pediatrics, National Taiwan University Hospital and National Taiwan University, College of Medicine, Taipei, Taiwan.
Chou
Hung-Chieh
HC
Tsao
Po-Nien
PN
Hsieh
Wu-Shiun
WS
Hwu
Wuh-Liang
WL
D000015:Abnormalities, Multiple / Q000235:genetics; D002887:Chromosomes, Human, Pair 18; D004200:Diseases in Twins / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010641:Phenotype; D014314:Trisomy / Q000235:genetics*; D014430:Twins, Monozygotic