PMID- 12673638
OWN - NLM
STAT- MEDLINE
DCOM- 20031105
LR  - 20091119
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 23
IP  - 4
DP  - 2003 Apr
TI  - Fetoplacental discrepancy involving structural abnormalities of chromosome 8 
      detected by prenatal diagnosis.
PG  - 319-22
AB  - We describe the finding of three cell lines involving different structural 
      abnormalities of chromosome 8 detected in a prenatal diagnosis. Chorionic villi 
      sampling (CVS) was performed on a pregnant woman because of advanced maternal 
      age. Semidirect cytogenetic analysis showed a mos46,XX,i(8q)/46,XX,del(8)(p11.2) 
      karyotype, confirmed by fluorescence in situ hybridization (FISH). Amniocentesis 
      was subsequently performed, and the karyotype obtained was 
      46,XX,dup(8)(p23p11.2). The pregnancy was terminated; pathologic findings 
      included clubfeet, clenched left hand, subcutaneous edema and bilateral 
      hydrocephalus. Molecular studies using chromosome 8 microsatellites performed on 
      parents' blood and fetal tissues revealed a maternal meiotic origin of the inv 
      dup(8p) with deletion of the distal p23 region and duplication of the remaining 
      8p. We propose a model to explain the cytogenetic findings, which includes a 
      first maternal meiotic error giving rise to a large dicentric isochromosome 8 
      present in the ovum, a second error in one of the first zygote divisions with 
      misdivision of the dicentric 8 giving rise to a cell line with del(8p) confined 
      to the trophoblast and another cell line with inv dup(8p) confined to the fetal 
      tissue and a third error in the trophoblast giving rise to a further cell line 
      with isochromosome 8q.
CI  - Copyright 2003 John Wiley & Sons, Ltd.
FAU - Soler, Anna
AU  - Soler A
AD  - Servei de Genetica, CDB, Hospital Clinic, Barcelona, Spain. asoler@clinic.ub.es
FAU - Sanchez, Aurora
AU  - Sanchez A
FAU - Carrio, Ana
AU  - Carrio A
FAU - Badenas, Celia
AU  - Badenas C
FAU - Mila, Montserrat
AU  - Mila M
FAU - Borrell, Antoni
AU  - Borrell A
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Abortion, Eugenic
MH  - Adult
MH  - *Chorionic Villi Sampling
MH  - Chromosome Banding
MH  - Chromosome Deletion
MH  - Chromosome Disorders/*diagnosis
MH  - *Chromosome Inversion
MH  - *Chromosomes, Human, Pair 8
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Maternal Age
MH  - Microsatellite Repeats/genetics
MH  - Models, Genetic
MH  - Mosaicism/*diagnosis
MH  - Pregnancy
MH  - Pregnancy, High-Risk
EDAT- 2003/04/04 05:00
MHDA- 2003/11/06 05:00
CRDT- 2003/04/04 05:00
PHST- 2003/04/04 05:00 [pubmed]
PHST- 2003/11/06 05:00 [medline]
PHST- 2003/04/04 05:00 [entrez]
AID - 10.1002/pd.590 [doi]
PST - ppublish
SO  - Prenat Diagn. 2003 Apr;23(4):319-22. doi: 10.1002/pd.590.