%0 Journal Article
%T Isocromosoma 18q en mosaico: Caso cl¨ªnico
%A MU£¿OZ R
%A MAR¨ªA PAZ
%A AVENDA£¿O B
%A ISABEL
%A ARACENA A
%A MARIANA
%A GUERRERO C
%A XIMENA
%J Revista chilena de pediatr¨ªa
%D 2009
%I Sociedad Chilena de Pediatr¨ªa
%R 10.4067/S0370-41062009000200008
%X 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.
%K isochromome 18
%K small stature
%K chromosomal mosaicism
%K dysmorphic features.
%U http://www.scielo.cl/scielo.php?script=sci_abstract&pid=S0370-41062009000200008&lng=en&nrm=iso&tlng=en