Prenatal detection of monosomy 21 mosaicism.
We report a case of chromosomal mosaicism for monosomy 21 revealed in amniotic fluid cell culture. Ultrasound examination at 19 weeks' gestation showed in utero growth retardation and a complex cardiac malformation. A repeated amniocentesis confirmed the presence of monosomy 21 mosaicism. In view of the sonographically detected fetal abnormalities, termination of pregnancy was elected.
Ghidini
A
A
Department of Pathology, Mount Sinai School of Medicine, New York, NY 10029.
Fallet
S
S
Robinowitz
J
J
Lockwood
C J
CJ
Dische
R
R
Willner
J
J
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D000032:Abortion, Therapeutic; D000328:Adult; D000649:Amniocentesis; D002891:Chromosomes, Human, Pair 21; D004452:Echocardiography; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging / Q000235:genetics*; D005317:Fetal Growth Retardation / Q000000981:diagnostic imaging; D005385:Fingers / Q000002:abnormalities; D006330:Heart Defects, Congenital / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D009006:Monosomy; D009030:Mosaicism; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis; D016216:Ultrasonography, Prenatal