Prenatal diagnosis and post-mortem study of a fetus with mosaic trisomy 14 due to a dic(14)(p11).
Amniocentesis at 17 weeks' gestation revealed a mosaic karyotype--46,XX/46,XX,-14,+dic(14)(p11). No abnormalities were detected on ultrasound. Growth and placentation were normal. The fetus was examined after termination of pregnancy and micrognathia and pulmonary hyperlobation were the only abnormalities detected. Several tissues were set up for cytogenetics, including fetal skin, kidney, ovary, and placenta. The diagnosis was confirmed by these studies. The level of mosaicism varied between tissues, with the trisomy 14 cell line highest in amniotic fluid.
Lambert
I
I
Department of Genetics, Children's Hospital, Camperdown, NSW, Australia.
Kemp
J
J
Jackson
J
J
Joyce
H
H
Mann
S
S
Kan
A
A
Smith
A
A
D000328:Adult; D000649:Amniocentesis; D000653:Amniotic Fluid / Q000166:cytology; D002478:Cells, Cultured; D002883:Chromosomes, Human, Pair 14; D005260:Female; D005865:Gestational Age; D006801:Humans; D007621:Karyotyping; D008168:Lung / Q000002:abnormalities; D008844:Micrognathism / Q000235:genetics; D009030:Mosaicism; D011247:Pregnancy; D014314:Trisomy