G Deletion Syndrome II.

Author: Bon Su KOO ¹ ; Sang Uk PARK ; Yung Tak LIM ; Hee Ju PARK
Author Information

1. Department of Pediatrics, College of Medicine, Pusan National University, Pusan, Korea.
Publication Type:Original Article
Keywords: G deletion syndrome II
MeSH: Arm; Chromosomes, Human, Pair 22; Congenital Abnormalities; Ear; Esophagus; Humans; Infant, Newborn; Intellectual Disability; Male; Microcephaly; Palate
From:Journal of the Korean Pediatric Society 1995;38(2):240-244
CountryRepublic of Korea
Language:Korean
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.