PMID- 8953640
OWN - NLM
STAT- MEDLINE
DCOM- 19970306
LR  - 20061115
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 16
IP  - 11
DP  - 1996 Nov
TI  - Molecular analysis by fluorescence in situ hybridization of a prenatally detected 
      de novo complex chromosomal rearrangement t(2q;3p;4q;13q).
PG  - 1046-50
AB  - We report one case of de novo complex chromosomal rearrangement (CCR) 
      t(2q;3p;4q;13q) with at least five chromosomal breakpoints. This CCR was detected 
      prenatally at 22 weeks of gestation, when mild echographic indications were 
      disclosed during a routine examination in a female with no family history of 
      congenital abnormalities. This observation clearly illustrates what the 
      fluorescence in situ hybridization (FISH) technique can offer to the analysis of 
      such rearrangements, together with standard cytogenetic techniques. No 
      chromosomal imbalance was cytologically proved. Nevertheless, the status of the 
      infant at birth and the disorders that he exhibited during the following months 
      demonstrate once again that even in the absence of alarming ultrasonographic 
      verifications and even if standard and molecular cytogenetics do not allow us to 
      confirm evident chromosomal imbalances, genetic counselling in the case of 
      prenatally detected de novo CCR must remain cautious.
FAU - Mercier, S
AU  - Mercier S
AD  - URA CNRS 561 et IETG Besancon, Faculte de Medecine, France.
FAU - Fellmann, F
AU  - Fellmann F
FAU - Cattin, J
AU  - Cattin J
FAU - Bresson, J L
AU  - Bresson JL
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
SB  - IM
MH  - Abnormalities, Multiple/genetics
MH  - Adult
MH  - Amniocentesis
MH  - *Chromosome Aberrations
MH  - Chromosomes, Human, Pair 13
MH  - Chromosomes, Human, Pair 2
MH  - Chromosomes, Human, Pair 3
MH  - Chromosomes, Human, Pair 4
MH  - Female
MH  - Gestational Age
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Pregnancy
MH  - *Prenatal Diagnosis
MH  - Ultrasonography, Prenatal
EDAT- 1996/11/01 00:00
MHDA- 2000/06/20 09:00
CRDT- 1996/11/01 00:00
PHST- 1996/11/01 00:00 [pubmed]
PHST- 2000/06/20 09:00 [medline]
PHST- 1996/11/01 00:00 [entrez]
AID - 10.1002/(SICI)1097-0223(199611)16:11<1046::AID-PD989>3.0.CO;2-O [pii]
AID - 10.1002/(SICI)1097-0223(199611)16:11<1046::AID-PD989>3.0.CO;2-O [doi]
PST - ppublish
SO  - Prenat Diagn. 1996 Nov;16(11):1046-50. doi: 
      10.1002/(SICI)1097-0223(199611)16:11<1046::AID-PD989>3.0.CO;2-O.