Prenatal diagnosis of de novo partial trisomy 13q (13q22 --> qter) and partial monosomy 8p (8p23.3 --> pter) associated with holoprosencephaly, premaxillary agenesis, hexadactyly, and a hypoplastic left heart.
Chen
Chih-Ping
CP
Chern
Schu-Rern
SR
Hsu
Chin-Yuan
CY
Lee
Chen-Chi
CC
Lee
Meng-Shan
MS
Wang
Wayseen
W
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000328:Adult; D000649:Amniocentesis; D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D005260:Female; D005865:Gestational Age; D016142:Holoprosencephaly / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D018636:Hypoplastic Left Heart Syndrome / Q000175:diagnosis / Q000235:genetics; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008437:Maxilla / Q000002:abnormalities / Q000000981:diagnostic imaging / Q000196:embryology; D017689:Polydactyly / Q000175:diagnosis / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D014314:Trisomy; D016216:Ultrasonography, Prenatal