PMID- 15849779
OWN - NLM
STAT- MEDLINE
DCOM- 20050726
LR  - 20050502
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 25
IP  - 4
DP  - 2005 Apr
TI  - Prenatal foetal diagnosis of partial trisomy 3q and monosomy 13p due to a 
      maternal balanced rearrangement.
PG  - 292-5
AB  - The authors describe a case of a male foetus whose ultrasound at 20 weeks' 
      gestation revealed cystic hygroma, cleft lip and ventricular septal defect. 
      Amniotic fluid cytogenetics using GTG banding showed a 
      46,XY,der(13)t(3;13)(q12;p11.1) rearrangement, and fluorescence in situ 
      hybridization (FISH) delineated the relevant breakpoints. Familial studies 
      identified a maternal balanced translocation involving chromosomes 3 and 13. The 
      post-mortem examination confirmed the prenatal ultrasound findings.
FAU - Pires, Antonio
AU  - Pires A
AD  - Department of Paediatric Cardiology, Hospital Pediatrico de Coimbra, Portugal.
FAU - Ramos, Lina
AU  - Ramos L
FAU - Venancio, Margarida
AU  - Venancio M
FAU - Rei, Ana Isabel
AU  - Rei AI
FAU - Castedo, Sergio
AU  - Castedo S
FAU - Saraiva, Jorge
AU  - Saraiva J
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  - Amniocentesis
MH  - Chromosome Banding
MH  - Chromosomes, Human, Pair 13/*genetics
MH  - Chromosomes, Human, Pair 3/*genetics
MH  - Female
MH  - Gene Rearrangement/*genetics
MH  - Gestational Age
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Lymphangioma, Cystic/diagnosis/genetics
MH  - Male
MH  - Pregnancy
MH  - *Prenatal Diagnosis
MH  - *Trisomy/diagnosis/genetics
MH  - Ultrasonography, Prenatal
EDAT- 2005/04/26 09:00
MHDA- 2005/07/27 09:00
CRDT- 2005/04/26 09:00
PHST- 2005/04/26 09:00 [pubmed]
PHST- 2005/07/27 09:00 [medline]
PHST- 2005/04/26 09:00 [entrez]
AID - 10.1002/pd.1105 [doi]
PST - ppublish
SO  - Prenat Diagn. 2005 Apr;25(4):292-5. doi: 10.1002/pd.1105.