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

Journal of the Korean Pediatric Society 2002;45(6):804-808.
Published online June 15, 2002.
A Case of Trisomy 22 with Pulmonary Hypoplasia in a Liveborn Infant
Myoung-Bum Choi1, Ki Su Kang1, Chan-Hoo Park1, Hyang-Ok Woo1, Jeong-Hee Lee2, Jae-Ik Lee3, Won Young Paik3, Hee-Shang 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
폐형성 부전이 동반된 Trisomy 22 1례
최명범1, 강기수1, 박찬후1, 우향옥1, 이정희2, 이재익3, 백원영3, 윤희상1
1경상대학교 의과대학 소아과학교실
2경상대학교 의과대학 병리학교실
3경상대학교 의과대학 산부인과학교실
Correspondence: 
Chan-Hoo 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.
Key Words: Trisomy 22, Pulmonary hypoplasia, FISH


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