G Deletion Syndrome II

ABSTRACT

We experienced a case of G deletion syndrome II in a 8 year and 1 month old boy. He showed mental retardation, microcephaly, high arched palate, low set malformed ears, epicanthal fold, thoracic deformity, tracheomegaly and two lumens of esophagus. Chromosomal study showed the deletion of long arm of chromosome 22, kariotypically he was depicted as 46, XY, 22q-. A brief review of literature was also presented.