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Memorias del Instituto de Investigaciones en Ciencias de la Salud

versão On-line ISSN 1812-9528

Resumo

TORRES, E; RODRIGUEZ, S  e  MONJAGATA, N. Monosomy of long arm or chromosome 9 in patients with suspicion of Turner Syndrome: Case report. Mem. Inst. Investig. Cienc. Salud [online]. 2014, vol.12, n.2, pp.82-85. ISSN 1812-9528.

Chromosomal abnormalities occur with a frequency of 1 in 150 live newborns. They are generally not hereditary and most of them are characterized by expressing complex phenotypes consisting in congenital malformations associated with mental retardation. Among the carriers of numerical alterations, those with an extra chromosome are the most common and total monosomies are incompatible with life, except that of the X chromosome. This is the case of a 13-day girl admitted into a pediatrics service due to jaundice, cyanosis and respiratory distress, entering oxygen incubator. On physical examination, the girl presented various congenital malformations with clinical suspicion of being a carrier of Turner syndrome. A chromosomal study, performed in peripheral blood, was requested and a deletion of the complete long arm of one of the chromosomes of pair 9, in mosaic, was observed in 5% (3/60) of the analyzed cells. The karyotype was 46,XX[57]/46,XX,del(9)(q11.1àqter)[3]. The need of chromosomal studies in newborns with various malformations is highlighted, in order to rule out or confirm the presumptive diagnosis and take the appropriate measures of treatment and provide adequate genetic counseling to parents.

Palavras-chave : monosomy; chromosome 9; Turner syndrome.

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