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.
Department of Pathology, Mount Sinai School of Medicine, New York, NY 10029.
A
A
Ghidini
S
S
Fallet
J
J
Robinowitz
C J
CJ
Lockwood
R
R
Dische
J
J
Willner
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