PMID- 7677167
OWN - NLM
STAT- MEDLINE
DCOM- 19951019
LR  - 20061115
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 57
IP  - 3
DP  - 1995 Jul 3
TI  - Velo-cardio-facial syndrome: frequency and extent of 22q11 deletions.
PG  - 514-22
AB  - Velo-cardio-facial (VCFS) or Shprintzen syndrome is associated with deletions in 
      a region of chromosome 22q11.2 also deleted in DiGeorge anomaly and some forms of 
      congenital heart disease. Due to the variability of phenotype, the evaluation of 
      the incidence of deletions has been hampered by uncertainty of diagnosis. In this 
      study, 54 patients were diagnosed with VCFS by a single group of clinicians using 
      homogeneous clinical criteria independent of the deletion status. Cell lines of 
      these patients were established and the deletion status evaluated for three loci 
      within the commonly deleted region at 22q11.2 using fluorescence in situ 
      hybridization (FISH). In 81% of the patients all three loci were hemizygous. In 
      one patient we observed a smaller interstitial deletion than that defined by the 
      three loci. The phenotype of this patient was not different from that observed in 
      patients with larger deletions.
FAU - Lindsay, E A
AU  - Lindsay EA
AD  - Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 
      TX 77030, USA.
FAU - Goldberg, R
AU  - Goldberg R
FAU - Jurecic, V
AU  - Jurecic V
FAU - Morrow, B
AU  - Morrow B
FAU - Carlson, C
AU  - Carlson C
FAU - Kucherlapati, R S
AU  - Kucherlapati RS
FAU - Shprintzen, R J
AU  - Shprintzen RJ
FAU - Baldini, A
AU  - Baldini A
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Adolescent
MH  - Adult
MH  - Child
MH  - Child, Preschool
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, Pair 22
MH  - Cleft Palate/genetics
MH  - Face/abnormalities
MH  - Female
MH  - Heart Defects, Congenital/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Male
MH  - Phenotype
MH  - Syndrome
EDAT- 1995/07/03 00:00
MHDA- 1995/07/03 00:01
CRDT- 1995/07/03 00:00
PHST- 1995/07/03 00:00 [pubmed]
PHST- 1995/07/03 00:01 [medline]
PHST- 1995/07/03 00:00 [entrez]
AID - 10.1002/ajmg.1320570339 [doi]
PST - ppublish
SO  - Am J Med Genet. 1995 Jul 3;57(3):514-22. doi: 10.1002/ajmg.1320570339.