Abstract
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.
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