PMID- 8606880
OWN - NLM
STAT- MEDLINE
DCOM- 19960517
LR  - 20190905
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 15
IP  - 11
DP  - 1995 Nov
TI  - Mosaicism for trisomy 12: four cases with varying outcomes.
PG  - 1017-26
AB  - Trisomy 12 observed in chorionic villus sampling (CVS) may reflect generalized 
      mosaicism or indicate mosaicism confined to only the placenta. In this report, 
      four cases of trisomy 12 observed in CVS or cultured placental biopsies with 
      varying outcomes are presented. Seven dinucleotide repeat polymorphisms for 
      chromosome 12 were used to determine the chromosome 12 origins in the fetus or 
      child and to delineate the mechanism(s) that gave rise to the trisomy. In two 
      cases (cases A and C), the mosaicism was confined to the placenta, resulting in 
      normal liveborns. Although, in one case, the molecular results suggested an 
      apparent duplication of one paternal chromosome 12 in the placenta, normal 
      biparental inheritance was found in the diploid fetal cell line in both cases. In 
      two other cases (cases B and D), trisomy 12 was observed in both extraembryonic 
      and fetal tissues. In one of these pregnancies, a child was born by Caesarean 
      section at 37 weeks because of intrauterine growth retardation and 
      oligohydramnios, and resulted in neonatal death. Molecular markers and 
      fluorescence in situ hybridization (FISH) revealed low-level trisomy 12 mosaicism 
      in the spleen. In the fourth case, fetal abnormalities were detected on 
      ultrasound and low-level trisomy 12 mosaicism was observed in amniotic fluid 
      cells using conventional cytogenetics and FISH. Molecular markers revealed a 
      maternal meiosis I non-disjunction of chromosome 12 in DNA from a cultured 
      placental biopsy. Although predicting the outcomes of pregnancies involving 
      confined placental mosaicism remains difficult, molecular techniques are valuable 
      tools for distinguishing uniparental from biparental disomy and mechanisms of 
      mosaicism.
FAU - Bischoff, F Z
AU  - Bischoff FZ
AD  - Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 
      TX, USA.
FAU - Zenger-Hain, J
AU  - Zenger-Hain J
FAU - Moses, D
AU  - Moses D
FAU - Van Dyke, D L
AU  - Van Dyke DL
FAU - Shaffer, L G
AU  - Shaffer LG
LA  - eng
GR  - RR-05425/RR/NCRR NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Adult
MH  - *Chorionic Villi Sampling
MH  - *Chromosomes, Human, Pair 12
MH  - Congenital Abnormalities/genetics
MH  - DNA/analysis
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Maternal Age
MH  - *Mosaicism
MH  - Placenta/ultrastructure
MH  - Pregnancy
MH  - *Pregnancy Outcome
MH  - Pregnancy, High-Risk
MH  - *Trisomy
MH  - Ultrasonography, Prenatal
EDAT- 1995/11/01 00:00
MHDA- 1995/11/01 00:01
CRDT- 1995/11/01 00:00
PHST- 1995/11/01 00:00 [pubmed]
PHST- 1995/11/01 00:01 [medline]
PHST- 1995/11/01 00:00 [entrez]
AID - 10.1002/pd.1970151106 [doi]
PST - ppublish
SO  - Prenat Diagn. 1995 Nov;15(11):1017-26. doi: 10.1002/pd.1970151106.