SciELO - Scientific Electronic Library Online

 
vol.80 número2Uso de sustituto dérmico en niños con secuelas de quemaduras: Tres casos clínicosImpacto de las migraciones en Chile: Nuevos retos para el pediatra. ¿Estamos preparados? índice de autoresíndice de materiabúsqueda de artículos
Home Pagelista alfabética de revistas  

Servicios Personalizados

Revista

Articulo

Indicadores

Links relacionados

Compartir


Revista chilena de pediatría

versión impresa ISSN 0370-4106

Resumen

MUNOZ R, MARÍA PAZ; AVENDANO B, ISABEL; ARACENA A, MARIANA  y  GUERRERO C, XIMENA. Mosaic Isochromosome 18q: case-report. Rev. chil. pediatr. [online]. 2009, vol.80, n.2, pp.157-160. ISSN 0370-4106.  http://dx.doi.org/10.4067/S0370-41062009000200008.

Background: The Isochromosome 18q and chromosome 18 short arm deletion (18p-) constitute structural anomalies that are reported with certain frequency in the literature. However, the association of both abnormalities in a patient is very uncommon. Objective: Description of a clinical case of Isochromosome 18 with emphasys in the few phenotypic manifestations. Case-report: Female infant 18 months-old, with short stature, minor dysmorphic features and a slight psychomotor developmental delay, whose chromosomal study in peripheral blood showed a chromosomal mosaicism with two cell lines: chromosome 18 long arm isochromosome and deletion of chromosome 18 short arm. The chromosomal analysis of both parents did not show numerical neither morphological alterations. Discussion: This case illustrates the importance of requesting a karyotype in patients with small stature, dysmorphic features and/or malformations. The patient clinical features are compared with other similar cases described in the literature. The coexistence of both structural abnormalities (mosaicism) is extremely uncommon.

Palabras clave : Isochromome 18; small stature; chromosomal mosaicism; dysmorphic features.

        · 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