Skip to main content
PMC home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1994 Nov;31(11):830–834. doi: 10.1136/jmg.31.11.830

Pulmonary atresia associated with maternal 22q11.2 deletion: possible parent of origin effect in the conotruncal anomaly face syndrome.

L H Seaver 1, J W Pierpont 1, R P Erickson 1, R L Donnerstein 1, S B Cassidy 1
PMCID: PMC1016653  PMID: 7853364

Abstract

A blind study was designed to test the hypothesis that some persons with a relatively rare cardiac malformation, pulmonary atresia with ventriculoseptal defect (PA/VSD), have a recognisable phenotype. Fourteen patients with cyanotic congenital heart lesions were examined by dysmorphologists blinded to the type of cardiac malformation. Six children were judged to have a similar craniofacial appearance; all had PA/VSD. These children were not originally considered to fall within the classic phenotypes of the DiGeorge sequence or the velocardiofacial syndrome, both of which have been shown to be associated with deletions of 22q11. More recently, 22q11 deletions have been documented in the conotruncal anomaly face syndrome and apparently isolated conotruncal heart defects. A new acronym, CATCH 22 syndrome (Cardiac defects, Abnormal facies, Thymic hypoplasia, Cleft palate, and Hypocalcaemia) has been suggested to encompass this very broad phenotypic spectrum. A preliminary molecular study was conducted using the dinucleotide repeat D22S264 located on chromosome 22q11.2. All cases tested with the subtle but recognisable phenotype had deletions, all lacking the maternal contribution at this locus, suggesting there may be a parent of origin effect.

Full text

PDF
830

Images in this article

831Image
on p.831
832Image
on p.832

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Arvystas M., Shprintzen R. J. Craniofacial morphology in the velo-cardio-facial syndrome. J Craniofac Genet Dev Biol. 1984;4(1):39–45. [PubMed] [Google Scholar]
  2. Beemer F. A., de Nef J. J., Delleman J. W., Bleeker-Wagemakers E. M., Shprintzen R. J. Additional eye findings in a girl with the velo-cardio-facial syndrome. Am J Med Genet. 1986 Jul;24(3):541–542. doi: 10.1002/ajmg.1320240319. [DOI] [PubMed] [Google Scholar]
  3. Burn J., Takao A., Wilson D., Cross I., Momma K., Wadey R., Scambler P., Goodship J. Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11. J Med Genet. 1993 Oct;30(10):822–824. doi: 10.1136/jmg.30.10.822. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Driscoll D. A., Salvin J., Sellinger B., Budarf M. L., McDonald-McGinn D. M., Zackai E. H., Emanuel B. S. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis. J Med Genet. 1993 Oct;30(10):813–817. doi: 10.1136/jmg.30.10.813. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Driscoll D. A., Spinner N. B., Budarf M. L., McDonald-McGinn D. M., Zackai E. H., Goldberg R. B., Shprintzen R. J., Saal H. M., Zonana J., Jones M. C. Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome. Am J Med Genet. 1992 Sep 15;44(2):261–268. doi: 10.1002/ajmg.1320440237. [DOI] [PubMed] [Google Scholar]
  6. Goldberg R., Motzkin B., Marion R., Scambler P. J., Shprintzen R. J. Velo-cardio-facial syndrome: a review of 120 patients. Am J Med Genet. 1993 Feb 1;45(3):313–319. doi: 10.1002/ajmg.1320450307. [DOI] [PubMed] [Google Scholar]
  7. Golding-Kushner K. J., Weller G., Shprintzen R. J. Velo-cardio-facial syndrome: language and psychological profiles. J Craniofac Genet Dev Biol. 1985;5(3):259–266. [PubMed] [Google Scholar]
  8. Holder S. E., Winter R. M., Kamath S., Scambler P. J. Velocardiofacial syndrome in a mother and daughter: variability of the clinical phenotype. J Med Genet. 1993 Oct;30(10):825–827. doi: 10.1136/jmg.30.10.825. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Jedele K. B., Michels V. V., Puga F. J., Feldt R. H. Velo-cardio-facial syndrome associated with ventricular septal defect, pulmonary atresia, and hypoplastic pulmonary arteries. Pediatrics. 1992 May;89(5 Pt 1):915–919. [PubMed] [Google Scholar]
  10. Kelly D., Goldberg R., Wilson D., Lindsay E., Carey A., Goodship J., Burn J., Cross I., Shprintzen R. J., Scambler P. J. 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):308–312. doi: 10.1002/ajmg.1320450306. [DOI] [PubMed] [Google Scholar]
  11. Marineau C., Aubry M., Julien J. P., Rouleau G. A. Dinucleotide repeat polymorphism at the D22S264 locus. Nucleic Acids Res. 1992 Mar 25;20(6):1430–1430. [PMC free article] [PubMed] [Google Scholar]
  12. Meinecke P., Beemer F. A., Schinzel A., Kushnick T. The velo-cardio-facial (Shprintzen) syndrome. Clinical variability in eight patients. Eur J Pediatr. 1986 Dec;145(6):539–544. doi: 10.1007/BF02429059. [DOI] [PubMed] [Google Scholar]
  13. Shprintzen R. J., Goldberg R. B., Lewin M. L., Sidoti E. J., Berkman M. D., Argamaso R. V., Young D. A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome. Cleft Palate J. 1978 Jan;15(1):56–62. [PubMed] [Google Scholar]
  14. Shprintzen R. J., Goldberg R. B., Young D., Wolford L. The velo-cardio-facial syndrome: a clinical and genetic analysis. Pediatrics. 1981 Feb;67(2):167–172. [PubMed] [Google Scholar]
  15. Shprintzen R. J., Goldberg R., Golding-Kushner K. J., Marion R. W. Late-onset psychosis in the velo-cardio-facial syndrome. Am J Med Genet. 1992 Jan 1;42(1):141–142. doi: 10.1002/ajmg.1320420131. [DOI] [PubMed] [Google Scholar]
  16. Stevens C. A., Carey J. C., Shigeoka A. O. Di George anomaly and velocardiofacial syndrome. Pediatrics. 1990 Apr;85(4):526–530. [PubMed] [Google Scholar]
  17. Wilson D. I., Burn J., Scambler P., Goodship J. DiGeorge syndrome: part of CATCH 22. J Med Genet. 1993 Oct;30(10):852–856. doi: 10.1136/jmg.30.10.852. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. Wilson D. I., Goodship J. A., Burn J., Cross I. E., Scambler P. J. Deletions within chromosome 22q11 in familial congenital heart disease. Lancet. 1992 Sep 5;340(8819):573–575. doi: 10.1016/0140-6736(92)92107-q. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES