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Medical Genetics

The Division of Medical Genetics at Connecticut Children’s Medical Center offers genetic consultation, clinical evaluation, and counseling for a broad spectrum of genetic disorders and birth defects.

Our board-certified physicians and highly trained specialists offer a full range of pediatric genetic services including evaluations for children with delays in learning, autism spectrum disorders, congenital abnormalities, and more.

Areas of special expertise include the diagnosis and management of:

  • 22q11.2 deletion syndrome (e.g., DiGeorge or velocardiofacial syndrome)
  • Chromosomal problems
  • Down syndrome
  • Inherited disorders of connective tissue
  • Inherited hearing loss
  • 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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