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
