Detection of mosaic isochromosome 20q in amniotic fluid in a pregnancy with fetal arthrogryposis multiplex congenita and normal karyotype in fetal blood and postnatal samples of placenta, skin, and liver.
Chen
Chih-Ping
CP
D000328:Adult; D000649:Amniocentesis; D000653:Amniotic Fluid / Q000166:cytology; D001176:Arthrogryposis / Q000175:diagnosis* / Q000235:genetics; D002890:Chromosomes, Human, Pair 20; D017218:Cordocentesis; D017809:Fatal Outcome; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D005865:Gestational Age; D006801:Humans; D007231:Infant, Newborn; D018404:Isochromosomes / Q000235:genetics*; D007621:Karyotyping; D008099:Liver; D009030:Mosaicism; D010920:Placenta; D011247:Pregnancy; D012867:Skin; D016216:Ultrasonography, Prenatal