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Memorias del Instituto de Investigaciones en Ciencias de la Salud

versão On-line ISSN 1812-9528

Resumo

RODRIGUEZ, S; MONJAGATA, N  e  ASCURRA, M. Partial trisomy of chromosome 9. A case report. Mem. Inst. Investig. Cienc. Salud [online]. 2005, vol.3, n.1, pp.71-73. ISSN 1812-9528.

The cytogenetic evidence of the partial trisomy of chromosome 9, either complete or affecting part of the short arm with or without trisomy in the long arm, produces mental retardation and constant clinical and physical characteristics. We present a 2-year and six months old girl, derived to the genetics consulting service because of low weight, hypoacusia and absence of language. She was the first daughter of non-consanguineous 31 year-old father and 29 year-old mother with prenatal control. To the physical exam she presented a cephalic circumference of 46 cm (-2 DS), 85 cm height, 10 kg weight, with high nasal bridge, prominent ears of low installation, short fingers of hands and feet with ungueal hypoplasia. The chromosome study of peripheral blood lymphocytes stimulated with phytohemagglutinin showed a partial trisomy of chromosome 9. Kariotype 47,XX,+ (9) (p11, 1; p24,3). The phenotypic findings observed in the girl are compared to those of other patients with different cytogenetic alterations of the same chromosome, being corroborated the existence of a critical region for the phenotype described for 9p syndrome.

Palavras-chave : Partial trisomy; Ungueal hypoplasia; Chromosome 9.

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