PMID- 16095036
OWN - NLM
STAT- MEDLINE
DCOM- 20050906
LR  - 20191109
IS  - 1551-3815 (Print)
IS  - 1551-3815 (Linking)
VI  - 23
IP  - 4
DP  - 2004 Jul-Aug
TI  - A rare case of interstitial del(1)(p34.3p36.11) diagnosed prenatally.
PG  - 251-5
AB  - We report a very rare constitutional interstitial deletion of chromosome 1p 
      defined within 1p34.3-36.11 bands with an intact pter. The diagnosis was made by 
      standard cytogenetics and fluorescence in situ hybridization (FISH) studies on a 
      cordocentesis specimen obtained at 21 weeks gestation. Termination of pregnancy 
      was performed at 22 weeks gestation due to the ultrasound diagnosis of congenital 
      heart disease. Autopsy confirmed congenital heart disease (cardiomegaly, 
      Ebstein's anomaly, secundum atrial septal defect, subendocardial fibroelastosis), 
      pulmonary lymphangiectasis, a high arched palate, short neck, and bilateral long 
      proximally implanted thumbs. To our knowledge, this is the first case of del(1) 
      (p34.3p36.11) diagnosed prenatally.
FAU - Yang, Hua
AU  - Yang H
AD  - Department of Pathology, and Laboratory of Medicine, IWK Health Centre, 5850 
      University Avenue, Halifax, Nova Scotia B3H 1V7, Canada.
FAU - Lee, Christine L Y
AU  - Lee CL
FAU - Young, David C
AU  - Young DC
FAU - Shortliffe, Michelle
AU  - Shortliffe M
FAU - Yu, Weiming
AU  - Yu W
FAU - Wright, James R
AU  - Wright JR
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - England
TA  - Fetal Pediatr Pathol
JT  - Fetal and pediatric pathology
JID - 101230972
SB  - IM
MH  - Abnormalities, Multiple/*genetics/*pathology
MH  - Adult
MH  - *Chromosome Aberrations
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 1/*genetics
MH  - Female
MH  - Fetus
MH  - Humans
MH  - Pregnancy
MH  - Prenatal Diagnosis
MH  - Spectral Karyotyping
EDAT- 2005/08/13 09:00
MHDA- 2005/09/07 09:00
CRDT- 2005/08/13 09:00
PHST- 2005/08/13 09:00 [pubmed]
PHST- 2005/09/07 09:00 [medline]
PHST- 2005/08/13 09:00 [entrez]
AID - 10.1080/15227950490923624 [doi]
PST - ppublish
SO  - Fetal Pediatr Pathol. 2004 Jul-Aug;23(4):251-5. doi: 10.1080/15227950490923624.