PMID- 7625444
OWN - NLM
STAT- MEDLINE
DCOM- 19950828
LR  - 20081121
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 56
IP  - 2
DP  - 1995 Mar 27
TI  - Submicroscopic deletions at 22q11.2: variability of the clinical picture and 
      delineation of a commonly deleted region.
PG  - 191-7
AB  - DiGeorge anomaly (DGA) and velo-cardiofacial syndrome (VCFS) are frequently 
      associated with monosomy of chromosome region 22q11. Most patients have a 
      submicroscopic deletion, recently estimated to be at least 1-2 Mb. It is not 
      clear whether individuals who present with only some of the features of these 
      conditions have the deletion, and if so, whether the size of the deletion varies 
      from those with more classic phenotypes. We have used fluorescence in situ 
      hybridization (FISH) to assess the deletion status of 85 individuals referred to 
      us for molecular analysis, with a wide range of DGA-like or VCFS-like clinical 
      features. The test probe used was the cosmid sc11.1, which detects two loci about 
      2 Mb apart in 22q11.2. Twenty-four patients carried the deletion. Of the deleted 
      patients, most had classic DGA or VCFS phenotypes, but 6 deleted patients had 
      mild phenotypes, including 2 with minor facial anomalies and velopharyngeal 
      incompetence as the only presenting signs. Despite the great phenotypic 
      variability among the deleted patients, none had a deletion smaller than the 2-Mb 
      region defined by sc11.1. Smaller deletions were not detected in patients with 
      particularly suggestive phenotypes who were not deleted for sc11.1, even when 
      tested with two other probes from the DGA/VCFS region.
FAU - Lindsay, E A
AU  - Lindsay EA
AD  - Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 
      TX 77030, USA.
FAU - Greenberg, F
AU  - Greenberg F
FAU - Shaffer, L G
AU  - Shaffer LG
FAU - Shapira, S K
AU  - Shapira SK
FAU - Scambler, P J
AU  - Scambler PJ
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/diagnosis/*genetics
MH  - Adolescent
MH  - Adult
MH  - Child
MH  - Child, Preschool
MH  - *Chromosome Deletion
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 22
MH  - DiGeorge Syndrome/diagnosis/*genetics
MH  - Face/abnormalities
MH  - Genetic Variation
MH  - Heart Defects, Congenital/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Infant, Newborn
MH  - Skull/abnormalities
MH  - Velopharyngeal Insufficiency/genetics
EDAT- 1995/03/27 00:00
MHDA- 1995/03/27 00:01
CRDT- 1995/03/27 00:00
PHST- 1995/03/27 00:00 [pubmed]
PHST- 1995/03/27 00:01 [medline]
PHST- 1995/03/27 00:00 [entrez]
AID - 10.1002/ajmg.1320560216 [doi]
PST - ppublish
SO  - Am J Med Genet. 1995 Mar 27;56(2):191-7. doi: 10.1002/ajmg.1320560216.