PMID- 9285664
OWN - NLM
STAT- MEDLINE
DCOM- 19970916
LR  - 20190622
IS  - 0002-9149 (Print)
IS  - 0002-9149 (Linking)
VI  - 80
IP  - 4
DP  - 1997 Aug 15
TI  - A genetic etiology for interruption of the aortic arch type B.
PG  - 493-7
AB  - Interrupted aortic arch (IAA) type B is a congenital heart defect believed to be 
      caused by an anomaly of bronchial arch mesenchymal development. IAA type B has 
      been associated with DiGeorge syndrome (DGS), which includes conotruncal heart 
      defects, T-cell immunodeficiency, hypocalcemia, and facial abnormalities. The 
      great majority of DGS cases are associated with hemizygous deletions at the 
      chromosome 22q11 locus. The present study was designed to establish the 
      involvement of the 22q11 locus in the etiology of IAA type B, independently from 
      the typical DGS phenotype. An evaluation was performed on 73 patients with 
      conotruncal heart defects using fluorescence in situ hybridization (FISH) 
      analysis with probes from the 22q11 DGS locus. From this group, 7 patients were 
      deleted (including 4 of the 11 patients with IAA type B). FISH analysis was 
      extended to a total of 22 patients with IAA type B and 11 of these (50%) were 
      deleted. FISH and Southern blot analyses using additional markers within the 
      DiGeorge chromosomal region were performed on patients found not to be deleted in 
      the initial FISH screening. No small deletions or rearrangements were detected. 
      In our patient population, a single, specific genetic defect is the basis for one 
      half of the IAA type B cases. These data suggest that IAA type B is one of the 
      most etiologically homogeneous congenital heart defects. A 22q11 deletion in IAA 
      type B may or may not be associated with the typical DGS phenotype. Therefore, 
      IAA type B, per se, should be an indication for 22q11 deletion testing.
FAU - Lewin, M B
AU  - Lewin MB
AD  - Department of Pediatrics, Texas Children's Hospital, Baylor College of Medicine, 
      Houston 77030, USA.
FAU - Lindsay, E A
AU  - Lindsay EA
FAU - Jurecic, V
AU  - Jurecic V
FAU - Goytia, V
AU  - Goytia V
FAU - Towbin, J A
AU  - Towbin JA
FAU - Baldini, A
AU  - Baldini A
LA  - eng
GR  - HL515L4/HL/NHLBI NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Am J Cardiol
JT  - The American journal of cardiology
JID - 0207277
RN  - 0 (DNA Probes)
SB  - IM
MH  - Aorta, Thoracic/*abnormalities
MH  - Blotting, Southern
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 22/*genetics
MH  - DNA Probes
MH  - Female
MH  - Heart Defects, Congenital/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
EDAT- 1997/08/15 00:00
MHDA- 1997/08/15 00:01
CRDT- 1997/08/15 00:00
PHST- 1997/08/15 00:00 [pubmed]
PHST- 1997/08/15 00:01 [medline]
PHST- 1997/08/15 00:00 [entrez]
AID - S0002914997004013 [pii]
AID - 10.1016/s0002-9149(97)00401-3 [doi]
PST - ppublish
SO  - Am J Cardiol. 1997 Aug 15;80(4):493-7. doi: 10.1016/s0002-9149(97)00401-3.