A 30-year-old man presented to our hospital with developmental delay, recurrent respiratory infections and short stature. Examination showed broad thumbs and hallux, beaked nose and big toes. Rubinstein-Taybi syndrome (RTS) was diagnosed based on typical clinical features. RTS was described by Rubinstein and Taybi in 19631. They reported a patient with big toes, craniofacial ab nor ma lities an...

INTRODUCTION Chromosomal aberrations of chromosome 16 are uncommon and submicroscopic deletions have rarely been reported. At present, a cytogenetic or molecular abnormality can only be detected in 55% of Rubinstein-Taybi syndrome patients, leaving the diagnosis in 45% of patients to rest on clinical features only. Interestingly, this microdeletion of 16 p13.3 was found in a young child with an...

A pair of male monozygotic twins discordant for Rubinstein-Taybi syndrome is reported. Monozygosity of the twins was established using blood grouping, typing of serum proteins, isozymes, HLA, and chromosomal heteromorphisms. The twins are the first twin pair discordant for the syndrome in which monozygosity has been firmly established. The pathogenesis of the syndrome is discussed in relation t...

Rubinstein Taybi syndrome (RTS) is a rare genetic condition caused by mutation or deletion in the CREBBP and/or EP300 gene located on chromosome 16. It characterized short stature, moderate to severe learning difficulties, distinctive facial features and broad thumbs toes. occurs estimated 1 1,25000 3,00000 births. Diagnosis mainly depends upon presence of features, abnormal facies, abnormaliti...

Rubinstein-Taybi syndrome is characterized by a broad thumb and bulbous hallux, short stature, intellectual disability and distinctive facial features [1]. It is a rare neuro-developmental disorder with a reported prevalence of 1 in 1,25,000 births [2]. Psychosis in RTS is highly infrequent with only a few scattered case reports [3]. A comprehensive literature search yielded only one case repor...