All issues > Volume 45(6); 2002

Case Report

J Korean Pediatr Soc. 2002;45(6):804-808. Published online June 15, 2002.

A Case of Trisomy 22 with Pulmonary Hypoplasia in a Liveborn Infant

Myoung-Bum MB Choi¹, Ki Su KS Kang¹, Chan-Hoo CH Park¹, Hyang-Ok HO Woo¹, Jeong-Hee JH Lee², Jae-Ik JI Lee³, Won Young WY Paik³, Hee-Shang HS Youn¹

¹Departments of Pediatrics, Gyeongsang National University College of Medicine, Chinju, Korea
²Departments of Pathology, Gyeongsang National University College of Medicine, Chinju, Korea
³Departments of Obstetrics and Gynecology, Gyeongsang National University College of Medicine, Chinju, Korea

Correspondence Chan-Hoo CH Park ,Email: aroma@nongae.gsnu.ac.kr

Abstract

We report a case of trisomy 22 in a liveborn male infant which was confirmed by fluorescence in situ hybridization(FISH), macrocultures and GTG-banding, and RHA-banding procedures of peripheral white blood cells. The infant showed lung hypoplasia, which is a unique presentation, with other clinical manifestations of previously reported cases of trisomy 22, such as intrauterine growth retardation, cleft palate, micrognathia, large atrial septal defect, limb anomalies, imperforate anus, and hypospadias. Our report gives weight to the previously reported observation that pulmonary hypoplasia may be associated in trisomy 22.

Keywords :Trisomy 22, Pulmonary hypoplasia, FISH