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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,...
Two Cases of Bart`s Syndrome in Mother and Daughter
Si-Eun Lee, Yong-Suk Kim, Su-Jin Lee, Chan-Hoo Park, Hyang-Ok Woo, Hee-Shang Youn, Jeong-Hee Lee
Clin Exp Pediatr. 2000;43(2):306-311.   Published online February 15, 2000
We experienced two cases of congenital localized skin defect and neonatal onset of relapsing subepidermal blisters associated with minor trauma in a female newborn infant and her mother. The mother of index case showed toe nail dystrophy at delivery of her daughter, but the index case did not reveal nail dystrophy until 14 months of age. The congenital skin defects...
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