Rubinstein-Taybi Syndrome Deletion

Test Background

Rubinstein-Taybi syndrome is characterized by intellectual disability, postnatal growth retardation, microcephaly, broad thumbs and halluces, and dysmorphic facial features including highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile. Approximately 10% of affected individuals have a 16p13.3 microdeletion syndrome. Deletion analysis by MLPA is performed by this laboratory.

Disorder(s)

Rubinstein-Taybi syndrome

Lab Method

MLPA

About Claritas

Claritas Genomics serves children affected with complex genetic disorders by providing timely and accurate results, resolving families’ long search for answers. By combining clinical expertise of the world’s best pediatric specialists with innovative platform solutions, Claritas is working to improve patient care and enable new discoveries. We are committed to the highest quality and accessibility of information and our interpretive services and unique approach to reporting set the standard for reliably and clearly communicating genetic information.

Now is the time to integrate genomics into clinical practice to inform, guide and improve medical treatment for kids around the world.