SciELO - Scientific Electronic Library Online

vol.4 issue1 author indexsubject indexarticles search
Home Pagealphabetic serial listing  

Services on Demand




  • Have no cited articlesCited by SciELO

Related links

  • Have no similar articlesSimilars in SciELO


Memorias del Instituto de Investigaciones en Ciencias de la Salud

On-line version 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.

Keywords : Jacobsen syndrome; 11q distal deletion; 9qh inversion.

        · abstract in Spanish     · text in Spanish     · Spanish ( pdf )


Creative Commons License All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License