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Genetic Information

Genetic Information

Discovery of genetic information in CdLS helps to better understand why, and how, CdLS happens, as well as why it varies so widely from one individual to another.

In 2004, researchers at the Children's Hospital of Philadelphia and the University of Newcastle upon Tyne (England), identified a gene (NIPBL) on chromosome 5 that causes CdLS when it is mutated. Since then, additional genes have been found (SMC1A, SMC3 and HDAC8) that cause CdLS when changed. There are likely other genes as well. Researchers hope to gain a better understanding of why CdLS varies so widely from one individual to another and what can be done to improve the quality of life for people with the syndrome.

Why it's important to have found the gene changes that cause CdLS:

  • To help confirm diagnosis (although gene changes are not present in all patients).
  • To offer reassurance, through genetic testing, that other family members are not affected.
  • To provide accurate information and counseling resources for future pregnancies.
  • To understand the role(s) the gene changes play in development.
  • To improve existing therapies and design new ones.
  • To generate interest about the syndrome in the medical/scientific research community.

Suggested Reading:

Genetic testing for CdLS is offered only through the following facilities:

Children's Hospital of Philadelphia
(Research Lab currently providing testing to individuals whose previous blood test(s) didn't show changes in NIPBL or SMC1A, and for families with multiple cases of CdLS)

Sarah Noon, Genetic Counselor
3615 Civic Center Blvd.
ARC 1012
Philadelphia, PA 19104

Phone: (215) 590‐4248
Fax: (215) 590‐3850
Email: noons@email.chop.edu

View CHOP's web page »

Download CHOP's Center for Cornelia de Lange Syndrome and Related Diagnoses brochure

University of Chicago Genetic Services Laboratories
(Clinical Lab)

Christopher Tan, MS, CGC
Certified Genetic Counselor
University of Chicago
5841 S Maryland Ave., MC 0077
Chicago, IL 60637
E-mail: ctan@bsd.uchicago.edu

Toll Free: (888) UC‐GENES
Local: (773) 834‐2627
Fax: (773) 834‐0556

Email: ucgslabs@genetics.uchicago.edu
CLIA #: 14D0917593
CAP #: 18827‐49

View the University of Chicago's web page »