- Original Article
- Use of Fluorescent in Situ Hybridization to Evaluate the Number of Chromosomes in Buccal Smear Cells in Normal Newborn Infants
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Byoung Chan Lee, Jee Yeon Song, So Young Kim, Hyun Hee Kim, Seunghoon Han, Jong-In Byun, Wonbae Lee, Kyong Su Lee
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Clin Exp Pediatr. 1995;38(11):1470-1475. Published online November 15, 1995
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Purpose : The diagnosis for chromosomal anomality has been made by obtaining cells in metaphase from peripheral blood and fresh tissue culture. But this method is difficult to perform because somewhat invasive and necessary time for cell culture and staining(48-72hr). Recently, the method to find numerical abnormalities in, autosome and sex chromosome of adult buccal mucosal smear by FISH was... |
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- Case Report
- A Case of Rhizomelic Chondrodysplasia Punctata
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Yeon Dong Lee, Moon Young Song, Hyun Hi Kim, Seunghoon Han, Wonbae Lee
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Clin Exp Pediatr. 1994;37(9):1312-1316. Published online September 15, 1994
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Chondrodysplasia punctata is a rare congenital disorder of bone, occuring in infants, which is characterized by raiographic manifestation of premature deposition of punctate calcific densitiy in epiphyseal areas, preformed in carilage.
We experienced a case of rhizomelic type-chondrodysplsia punctata in a two day old female who showed short stature, symmetric shortening of proximal limbs, cataract, icthyositic skin lesion and characteristic coronal... |
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