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Medical Genetics Services

Areas of special expertise include the diagnosis and management of:

  • 22q11.2 deletion syndrome (e.g., DiGeorge or velocardiofacial syndrome)
  • Autism/developmental evaluation
  • Chromosomal problems
  • Down syndrome
  • Genetic counseling
  • Inherited disorders of connective tissue
  • Inherited hearing loss
  • Metabolic newborn screening evaluation
  • Neurogenetics
  • Prader-Willi syndrome

Connecticut Children’s genetics specialists perform and interpret specialized genetic testing for a range of problems, and provide up-to-date information about the cause, heritability and management of genetic conditions.

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