emanuel syndrome results from der 22 t 11q23 22q11 cleft palate ear anomalies heart defects genital anomalies hypotonia and mental retardation are the main features of the syndrome we report a nine year old boy with the t 11 22 q23 q11 chromosome transmitted in an unbalanced fashion from his mother and originated in the maternal grandmother s meiosis in addition to mental retardation hypotonia craniofacial anomalies and cryptorchidism he has novel findings such as joint hyperextensibility left liver lobe agenesis left sided malposition of the gallbladder and pancreas hypoplasia this is the first report associating these features with emanuel syndrome.