Skip to main content
SpringerLink
Log in

Genetic predisposition to ventricular septal defect in Down syndrome

  • Letter to the Editor
  • Published:
Human Genetics Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

References

  • Baptista MJ, Fairbrother UL, Howard CM, Farrer MJ, Davies GE, Trikka D, Maratou K, Redington A, Greve G, Njolstad PR, Kessling AM (2000) Heterotrisomy, a significant contributing factor to ventricular septal defect asociated with Down syndrome? Hum Genet 107:476–482

    Article  CAS  PubMed  Google Scholar 

  • Digilio MC, Marino B, Canepa SA, Borzaga U, Giannotti A, Dallapiccola B (1998) Congenital heart defect in sibs with discordant karyotypes. Am J Med Genet 80:169–172

    Article  CAS  PubMed  Google Scholar 

  • Ferencz C, Boughman JA, Neill CA, Brenner JI, Perry LW (1989) Congenital cardiovascular malformations: question on inheritance. J Am Coll Cardiol 14:756–763

    Article  CAS  PubMed  Google Scholar 

  • Lo NS, Leung PM, Lau KC, Yeung CY (1989) Congenital cardiovascular malformations in Chinese children with Down syndrome. Chin Med J 102:382–386

    CAS  PubMed  Google Scholar 

  • Marino B (1996) Patterns of congenital heart disease and associated cardiac anomalies in children with Down syndrome. In: Marino B, Pueschel SM (eds) Heart disease in persons with Down syndrome. Paul Brookes, Baltimore, pp 133–140

    Google Scholar 

  • Marino B, Digilio MC, Persiani M, Di Donato R, Toscano A, Giannotti A, Dallapiccola B (1999) Deletion 22q11 with interrupted aortic arch. Am J Cardiol 84:360–361

    Article  CAS  PubMed  Google Scholar 

  • Momma K, Ando M, Matsuoka R, Joo K (1999) Interruption of the aortic arch associated with deletion of chromosome 22q11 is associated with a subarterial and doubly committed ventricular septal defect in Japanese patients. Cardiol Young 9:463–467

    CAS  PubMed  Google Scholar 

  • Park SC, Mathews RA, Zuberbuhler JR, Rowe RD, Neches WH, Lenox CC (1977) Down’s syndrome with congenital heart malformation. Am J Dis Child 131:29–33

    CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Pediatric Cardiology, Institute of Pediatrics, La Sapienza University, Viale Regina Elena 324, 00161, Rome, Italy

    Bruno Marino

  2. Medical Genetics, Bambino Gesu Hospital, Rome, Italy

    Maria Cristina Digilio

Authors
  1. Bruno Marino
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Maria Cristina Digilio
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Bruno Marino.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Marino, B., Digilio, M.C. Genetic predisposition to ventricular septal defect in Down syndrome. Hum Genet 109, 463 (2001). https://doi.org/10.1007/s004390100586

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s004390100586

Keywords

Search

Navigation