Trisomy 2: confined placental mosaicism in a fetus with intrauterine growth retardation.
In a pregnancy that was monitored due to increased risk for Down syndrome in the triple test, a normal karyotype was found in amniocentesis. Follow-up by serial ultrasound examinations revealed intrauterine growth retardation (IUGR) at 20 weeks of gestation. The parents decided to terminate the pregnancy and the karyotype of the placental fibroblasts was 47,XX,+2. Analysis of polymorphic markers of chromosome 2 demonstrated (a) that trisomy 2 was confined to the placenta (CPM), (b) that the trisomy 2 cell line was a result of a meiotic I error of paternal origin, and (c) that the fetal tissues with a normal karyotype were biparental disomy 2.
Ariel
I
I
Department of Pathology, Hadassah University Hospital, Hebrew University Hadassah Medical School, Jerusalem, Israel.
Lerer
I
I
Yagel
S
S
Cohen
R
R
Ben-Neriah
Z
Z
Abeliovich
D
D
D000328:Adult; D000649:Amniocentesis; D018997:Chorionic Gonadotropin, beta Subunit, Human / Q000097:blood; D002889:Chromosomes, Human, Pair 2; D004964:Estriol / Q000097:blood; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics*; D006801:Humans; D009030:Mosaicism; D010920:Placenta; D011110:Polymorphism, Genetic; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014314:Trisomy; D016216:Ultrasonography, Prenatal; D000509:alpha-Fetoproteins / Q000032:analysis
D018997:Chorionic Gonadotropin, beta Subunit, Human; D000509:alpha-Fetoproteins; D004964:Estriol