Trisomy 8 restricted to cultured fibroblasts.
نویسندگان
چکیده
منابع مشابه
Mosaic trisomy 8 detected by fibroblasts cultured of skin
INTRODUCTION Mosaic trisomy 8 or "Warkany's Syndrome" is a chromosomopathy with an estimated prevalance of 1:25,000 to 1:50,000, whose clinical presentation has a wide phenotypic variability. CASE DESCRIPTION Patient aged 14 years old with antecedents of global retardation of development, moderate cognitive deficit and hypothyroidism of possible congenital origin. CLINICAL FINDINGS Physical...
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Clinical and dermatoglyphic data on a male patient with complete trisomy 8 are reported and compared with those of other known cases of trisomy 8. The more discriminating findings for this condition are skeletal anomalies, restricted articular function, and speech problems.
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The skin is the largest tissue of man with several functions. Cosmetics/cosmeceuticals agents always are needed to be evaluated for their detrimental effects on the skin. Nowadays, the therapeutic potential of stem cells has and fibroblasts have increased the hope for a successful cell therapy in aesthetic medicine. Stem cells are unspecialized cells capable of renewing themselves through cell ...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1976
ISSN: 1468-6244
DOI: 10.1136/jmg.13.3.229