A Case of Trisomy 22 with Pulmonary Hypoplasia in a Liveborn Infant.
- Author:
Myoung Bum CHOI
1
;
Ki Su KANG
;
Chan Hoo PARK
;
Hyang Ok WOO
;
Jeong Hee LEE
;
Jae Ik LEE
;
Won Young PAIK
;
Hee Shang YOUN
Author Information
1. Department of Pediatrics, Gyeongsang National University College of Medicine, Chinju, Korea. aroma@nongae.gsnu.ac.kr
- Publication Type:Case Report
- Keywords:
Trisomy 22;
Pulmonary hypoplasia;
FISH
- MeSH:
Anus, Imperforate;
Cleft Palate;
Extremities;
Female;
Fetal Growth Retardation;
Fluorescence;
Heart Septal Defects, Atrial;
Humans;
Hypospadias;
Infant*;
Leukocytes;
Lung;
Male;
Trisomy*
- From:Journal of the Korean Pediatric Society
2002;45(6):804-808
- CountryRepublic of Korea
- Language:Korean
-
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.
