Memorias del Instituto de Investigaciones en Ciencias de la Salud
versão On-line ISSN 1812-9528
TORRES, E et al. 11 q monosomy compatible with Jacobsen syndrome. Case report. Mem. Inst. Investig. Cienc. Salud [online]. 2006, vol.4, n.1, pp.39-42. ISSN 1812-9528.
This is the case of a 13-day girl with a distal deletion of the long arm of chromosome 11 and a pericentric inversion of the heterochromatin of chromosome 9. Her mother also had a pericentric inversion of the heterochromatin of chromosome 9 and a chromosome marker. The cariotype of the affected girl was 46, XX, del (11) (q24 -11qter), inv 9qh and the cariotype of the mother, with normal phenotype, was 46,XX,/47,XX+mar, inv 9qh. The mother of the proband had a normal phenotype. This paper highlights the importance of making an accurate chromosomal diagnosis in a child with multiple malformations as well as the importance of making a chromosomal analysis of the parents to make the case prognosis and proper genetic counselling.
Palavras-chave : Jacobsen syndrome; 11q distal deletion; 9qh inversion.