Abstract
A Brazilian female infant presented delayed psychomotor development, skin pigmentary dysplasia and some dysmorphic features. Chromosome analysis from peripheral blood culture was normal, but the karyotype from skin fibroblasts revealed mosaicism for trisomy 13. This case demonstrates the relevance of performing chromosomal analysis of skin fibroblasts in patients with mental retardation, associated with pigmentary dysplasia of the skin and a normal karyotype in peripheral blood lymphocytes. To our knowledge, it is the first report of trisomy 13 demonstrated only in skin fibroblasts.
Trisomy 13 mosaicism; skin fibroblasts; psychomotor retardation; pigmentary dysplasia; dysmorphic features
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Trisomy 13 mosaicism demonstrated only in skin fibroblasts in a patient presenting psychomotor retardation, pigmentary dysplasia and some dysmorphic features
A.P.S. Ferreira; L.F. Mazzucatto; E.S. Ramos; J.M. Pina-Neto
Departamento de Genética e Matemática Aplicada à Biologia, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, 14049-900 Ribeirão Preto, SP, Brasil. Send correspondence to J.M.P.-N.
ABSTRACT
A Brazilian female infant presented delayed psychomotor development, skin pigmentary dysplasia and some dysmorphic features. Chromosome analysis from peripheral blood culture was normal, but the karyotype from skin fibroblasts revealed mosaicism for trisomy 13. This case demonstrates the relevance of performing chromosomal analysis of skin fibroblasts in patients with mental retardation, associated with pigmentary dysplasia of the skin and a normal karyotype in peripheral blood lymphocytes. To our knowledge, it is the first report of trisomy 13 demonstrated only in skin fibroblasts.
Keywords: Trisomy 13 mosaicism; skin fibroblasts; psychomotor retardation; pigmentary dysplasia; dysmorphic features.
References
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Publication Dates
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Publication in this collection
26 Oct 2006 -
Date of issue
1996