Ongoing research studies
- Genetic analysis of abnormalities of chromosome 22, including 22q11.2 deletion syndromes and the constitutional translocation between chromosomes 11 and 22 [t(11;22)]
- Genetics basis of Alagille syndrome
- Molecular and cytogenetic characterization of Cornelia deLange syndrome
- Genetics basis of cytogenomic disorders
- Genetic basis of craniofacial anomalies such as cleft palate, holoprosencephaly and craniosynostosis. This includes mutation analysis of the FGFR1,2,3 and the TWIST genes
- Spina bifida
- Conotruncal cardiac abnormalities and other congenital heart defects
- Syndromic and nonsyndromic deafness
- Genetic basis of pediatric brain and rhabdoid tumors, including mutation analysis of INI1, the recently identified rhabdoid tumor gene
- Diseases involving imprinting
- Genetic basis of complex pediatric disorders and traits
In addition to services at The Children's Hospital of Philadelphia, genetics consultations are also available at The Children's Hospital of Philadelphia Specialty Care Centers in Exton, Pa., King of Prussia, Pa. and Voorhees, N.J. (other satellites are planned).
Inquiries regarding our research protocals should be directed to 215-590-3856.