All issues > Volume 35(5); 1992

Case Report

J Korean Pediatr Soc. 1992;35(5):718-722. Published online May 15, 1992.

A Case of 8q2 Trisomy

Kwang Ik KI Song¹, Hyo Jeoing HJ Kim¹, Jin Bok JB Hwang¹, Chang Ho CH Han¹, Hye Li HL Chung¹, Young Dae YD Kwon¹

¹Department of Pediatrics, Catholic Hospital, Taegu, Korea

Abstract

A case of 8q2 trisomy with mental retardation and mutiple congenital anomalies has been presented with the review of related literatures. The patient was 6 month old male child with mild mental and growth retardation, microcephaly, flat occiput, hypertelorism, broad and flat nose, low-set and promient cupped ears, micrognathia, short and wide neck, widely spaced nipples, thoracolumbar scoliosis, single transverse palmar crease, deep palmar and plantar furrows, clinodactyly, overlapped toes with cryptorchism. Chromosomal study showed 46, XY, dup.(8) (q23-qter).

Keywords :8q2 Trisomy