Pediatric Genetic Services
At the Beth Israel Pediatric Ambulatory Center (PACC) we provide diagnosis,
management and counseling of a large variety of genetic disorders. These include
chromosome disorders (i.e. Down syndrome, Turner syndrome, etc), genetic syndromes
(i.e.: Marfan syndrome, Fragile-X syndrome, Neurofibromatosis, Cystic Fibrosis,
etc.), patients with post natal effects of maternal exposures (i.e. toxics,
infectious agents, etc.), and Inborn Errors of Metabolism (i.e. Phenylketonuria,
Gaucher disease, etc).