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J Korean Pediatr Soc. 2002 Jun;45(6):804-808. Korean. Case Report.
Choi MB , Kang KS , Park CH , Woo HO , Lee JH , Lee JI , Paik WY , Youn HS .
Department of Pediatrics, Gyeongsang National University College of Medicine, Chinju, Korea. aroma@nongae.gsnu.ac.kr
Department of Pathology, Gyeongsang National University College of Medicine, Chinju, Korea.
Department of Obstetrics and Gynecology, Gyeongsang National University College of Medicine, Chinju, Korea.
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.

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