SciELO - Scientific Electronic Library Online

 
vol.36 número3Lupus Eritematoso Incompleto con Inicio como Púrpura Trombocitopénica Autoinmune, en una Lactante de 5 Meses de EdadArtritis Idiopática Juvenil índice de autoresíndice de materiabúsqueda de artículos
Home Pagelista alfabética de revistas  

Servicios Personalizados

Revista

Articulo

Indicadores

  • No hay articulos citadosCitado por SciELO

Links relacionados

  • No hay articulos similaresSimilares en SciELO

Compartir


Pediatría (Asunción)

versión On-line ISSN 1683-9803

Resumen

TORRES, E et al. Partial Monosomy of the Short Arm of Chromosome 9. Pediatr. (Asunción) [online]. 2009, vol.36, n.3, pp.219-222. ISSN 1683-9803.

Worldwide, approximately 100 cases of partial monosomy of the short arm of chromosome 9 have been reported. The condition is a rare structural anomaly of the chromosome that in approximately 85% of cases represents a deletion due to a mutation that is de novo, sporadic, and spontaneous. The mutation occurs very early in embryonic development for reasons that are yet unknown, and generally involves a portion of the chromosome 9p22. This chromosomal condition may be suspected from birth due to phenotypic facial characteristics and the presence of deep palm creases. We describe a 15-year old female patient on whom a cytogenetic study was done due to mental retardation and various malformations. The chromosomal study, done using peripheral blood, showed 46,XX of the 9p22. Early performance of cytogenetic studies in patients with mental retardation and malformations is important in establishing a diagnosis and prognosis for the patient and for performing the appropriate family genetic counseling.

Palabras clave : Monosomy; chromosome 9; malformation; mental retardation; chromosome disorders.

        · resumen en Español     · texto en Español     · Español ( pdf )

 

Creative Commons License Todo el contenido de esta revista, excepto dónde está identificado, está bajo una Licencia Creative Commons