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Case Report

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

Myoung-Bum Choi, Ki Su Kang, Chan-Hoo Park, Hyang-Ok Woo, Jeong-Hee Lee, Jae-Ik Lee, Won Young Paik, Hee-Shang Youn

Clin Exp Pediatr. 2002;45(6):804-808. Published online June 15, 2002

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,...

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