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PMID: 7759065 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

22q11 deletions in isolated and syndromic patients with tetralogy of Fallot.

Human genetics ·Vol. 95 ·No. 5 ·1995-05-00 ·Pages 479-82

Amati F, Mari A, Digilio MC, Mingarelli R, Marino B, Giannotti A, Novelli G, Dallapiccola B

Abstract

Tetralogy of Fallot (TF) is a congenital conotruncal heart defect commonly found in DiGeorge (DGS) and velo-cardio-facial (VCFS) syndromes. The deletion of chromosome 22q11 (del22q11) is a well established cause of DGS and VCFS, and it has been demonstrated also in sporadic or familial cases of TF. In order to investigate the prevalence of del22q11 in patients with TF, we analyzed the DNA of 137 consecutive patients with syndromic and isolated TF, using the HD7k probe, which detects hemizygosity for the D22S134 locus. Del22q11 has been detected in 11/26 (42%) syndromic patients. Evidence for hemizygosity was obtained in all patients with DGS and in 8/15 patients with VCFS. None of the 107 patients with isolated TF had del22q11. Our experience suggests that children with TF and del22q11 always present major or minor extracardiac anomalies. These features, including subtle facial dysmorphisms, should be checked routinely in patients with TF and other conotruncal heart defects.

MeSH Terms
Adolescent Blotting, Southern Child Child, Preschool Chromosome Aberrations/genetics Chromosome Deletion Chromosomes, Human, Pair 22 DNA/analysis DNA Probes Female Humans In Situ Hybridization, Fluorescence Infant Infant, Newborn Male Prevalence Syndrome Tetralogy of Fallot/genetics
Chemicals
DNA Probes DNA
Authors & Affiliations
8 authors, click to expand affiliations / ORCID
Amati F
Department of Public Health and Cell Biology, University of Tor Vergata, Rome, Italy.
Mari A
Digilio M C
Mingarelli R
Marino B
Giannotti A
Novelli G
Dallapiccola B
References (30)
30 references, click to expand
  1. A prospective cytogenetic study of 36 cases of DiGeorge syndrome.
    Am J Hum Genet. 1992 Nov;51(5):957-63 PMID: 1415264
  2. Velocardiofacial (Shprintzen) syndrome: an important syndrome for the dysmorphologist to recognise.
    J Med Genet. 1991 Sep;28(9):596-604 PMID: 1956057
  3. Velo-cardio-facial syndrome: a review of 120 patients.
    Am J Med Genet. 1993 Feb 1;45(3):313-9 PMID: 8434617
  4. Tetralogy of Fallot. The spectrum of severity in a regional study, 1981-1985.
    Am J Dis Child. 1992 Jan;146(1):121-4 PMID: 1736639
  5. DiGeorge syndrome: an historical review of clinical and cytogenetic features.
    J Med Genet. 1993 Oct;30(10):803-6 PMID: 8230154
  6. Deletions within chromosome 22q11 in familial congenital heart disease.
    Lancet. 1992 Sep 5;340(8819):573-5 PMID: 1355155
  7. The structure of the pulmonary circulation in tetralogy of Fallot with pulmonary atresia. A quantitative cineangiographic study.
    J Thorac Cardiovasc Surg. 1988 Jun;95(6):1048-58 PMID: 3374156
  8. Cardiovascular anomalies in DiGeorge syndrome and importance of neural crest as a possible pathogenetic factor.
    Am J Cardiol. 1986 Jul 1;58(1):133-7 PMID: 3728313
  9. Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome.
    Am J Med Genet. 1992 Sep 15;44(2):261-8 PMID: 1360769
  10. Low-copy-number repeat sequences flank the DiGeorge/velo-cardio-facial syndrome loci at 22q11.
    Hum Mol Genet. 1993 Feb;2(2):191-6 PMID: 8499906
  11. A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11.
    Am J Hum Genet. 1992 May;50(5):924-33 PMID: 1349199
  12. Congenital cardiac anomalies associated with the DiGeorge syndrome: a neonatal experience.
    Ann Thorac Surg. 1984 Aug;38(2):146-50 PMID: 6465992
  13. Tetralogy of Fallot: an angiographic-pathologic correlative study.
    Circulation. 1981 Sep;64(3):558-66 PMID: 7261288
  14. Pattern of cardiac malformation in oculoauriculovertebral spectrum.
    Am J Med Genet. 1993 Jun 1;46(4):423-6 PMID: 8357015
  15. The gene for familial polyposis coli maps to the long arm of chromosome 5.
    Science. 1987 Dec 4;238(4832):1411-3 PMID: 3479843
  16. Survival analysis of infants under age 18 months presenting with tetralogy of Fallot.
    Ann Thorac Surg. 1993 Oct;56(4):944-9; discussion 949-50 PMID: 7692831
  17. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.
    J Med Genet. 1993 Oct;30(10):813-7 PMID: 8230155
  18. Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11.
    Am J Med Genet. 1993 Feb 1;45(3):308-12 PMID: 8434616
  19. Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus.
    Lancet. 1992 May 9;339(8802):1138-9 PMID: 1349369
  20. The spectrum of the DiGeorge syndrome.
    J Pediatr. 1979 Jun;94(6):883-90 PMID: 448529
  21. Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects.
    J Med Genet. 1993 Oct;30(10):807-12 PMID: 7901419
  22. Cardiac and noncardiac malformations: observations in a population-based study.
    Teratology. 1987 Jun;35(3):367-78 PMID: 3629517
  23. Role of neural crest in congenital heart disease.
    Circulation. 1990 Aug;82(2):332-40 PMID: 2197017
  24. The velo-cardio-facial syndrome: a clinical and genetic analysis.
    Pediatrics. 1981 Feb;67(2):167-72 PMID: 7243439
  25. Cytogenetic findings in a prospective series of patients with DiGeorge anomaly.
    Am J Hum Genet. 1988 Nov;43(5):605-11 PMID: 3189331
  26. Noonan's and DiGeorge syndromes with monosomy 22q11.
    Arch Dis Child. 1993 Feb;68(2):187-9 PMID: 8481040
  27. Isolation of a new marker and conserved sequences close to the DiGeorge syndrome marker HP500 (D22S134).
    J Med Genet. 1993 Oct;30(10):818-21 PMID: 8230156
  28. Velocardiofacial syndrome and DiGeorge sequence.
    J Med Genet. 1994 May;31(5):423-4 PMID: 8064827
  29. Cardiac malformations in the velocardiofacial syndrome.
    Am J Cardiol. 1980 Oct;46(4):643-8 PMID: 7416023
  30. Multiple congenital anomaly/mental retardation (MCA/MR) syndrome with Goldenhar complex due to a terminal del(22q).
    Am J Med Genet. 1988 Apr;29(4):909-15 PMID: 3400736
Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00223856
Published
1995-05-00
Pages
479-82
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00223856 View journal details
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