Premium
TRISOMY 2: CONFINED PLACENTAL MOSAICISM IN A FETUS WITH INTRAUTERINE GROWTH RETARDATION
Author(s) -
ARIEL ILANA,
LERER ISRAELA,
YAGEL SIMCHA,
COHEN RACHEL,
BENNERIAH ZIVA,
ABELIOVICH DVORAH
Publication year - 1997
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/(sici)1097-0223(199702)17:2<180::aid-pd31>3.0.co;2-#
Subject(s) - trisomy , amniocentesis , karyotype , fetus , aneuploidy , uniparental disomy , pregnancy , gestation , prenatal diagnosis , biology , placenta , growth retardation , obstetrics , chorionic villus sampling , andrology , chromosome , medicine , genetics , gene
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. © 1997 by John Wiley & Sons, Ltd.