PMID- 9147896
OWN - NLM
STAT- MEDLINE
DCOM- 19970509
LR  - 20190816
IS  - 0009-9163 (Print)
IS  - 0009-9163 (Linking)
VI  - 50
IP  - 6
DP  - 1996 Dec
TI  - Size of 22q deletions in four previously reported patients with conotruncal 
      anomaly face syndrome.
PG  - 545-7
AB  - Conotruncal anomaly face syndrome (CTAFS) was distinguished from 
      velo-cardio-facial syndrome (VCFS) in a bind study, yet shared the finding of 
      22q11.2 deletions. This work has been extended to show that the 22q11.2 deletions 
      in CTAFS greatly overlap those found in VCFS and many DiGeorge patients. The 
      reason for dissimilar phenotypes with apparently similar 22q11.2 deletions is not 
      yet known.
FAU - Pierpont, J W
AU  - Pierpont JW
AD  - Angel Charities for Children-Wings for Genetic Research, Steele Memorial 
      Children's Research Center, Department of Pediatrics, University of Arizona, 
      Tucson 85724-5073, USA.
FAU - Erickson, R P
AU  - Erickson RP
FAU - Thompson, F H
AU  - Thompson FH
FAU - Yang, J M
AU  - Yang JM
LA  - eng
PT  - Comparative Study
PT  - Journal Article
PL  - Denmark
TA  - Clin Genet
JT  - Clinical genetics
JID - 0253664
SB  - IM
MH  - Abnormalities, Multiple/classification/*genetics
MH  - Chromosome Aberrations/classification/*genetics
MH  - Chromosome Disorders
MH  - Chromosomes, Human, Pair 22/*genetics
MH  - DiGeorge Syndrome/genetics
MH  - Face/*abnormalities
MH  - Heart Defects, Congenital/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Phenotype
MH  - *Sequence Deletion
MH  - Syndrome
EDAT- 1996/12/01 00:00
MHDA- 1996/12/01 00:01
CRDT- 1996/12/01 00:00
PHST- 1996/12/01 00:00 [pubmed]
PHST- 1996/12/01 00:01 [medline]
PHST- 1996/12/01 00:00 [entrez]
AID - 10.1111/j.1399-0004.1996.tb02735.x [doi]
PST - ppublish
SO  - Clin Genet. 1996 Dec;50(6):545-7. doi: 10.1111/j.1399-0004.1996.tb02735.x.