A Identification Of 18q12.2-q21.1 Deletion : A case Report

Abstract

Deletion is loss of a chromosome segment, resulting in chromosomeimbalance. The clinical consequences depend on thesize of deleted segment and the number and function of thegenes that it contains. To discuss the phenotypic effects ofcytogenetically determined chromosomal abnormalities, furtherinvestigations by molecular techniques should be done.We present here a patient with a deletion involving longarm of chromosome 18. She was investigated cytogeneticallybecause of mental retardation, precocious puberty, attentiondeficit, hyperactivity, and dysmorphic features such as shortneck, upslanting palpebral features, hypoplasic maxilla, narrowpalate, low-set prominent ears and cubitus valgus.Cytogenetic analysis by high-resolution banding revealed anabnormal karyotype 46,XX,del(18)(q12.2-q21.1) while the parentshad a normal karyotype. Array-CGH analysis (CytoSure44K Array) was performed to identify the deleted region ofchromosome 18 and 8.55 Mb gross deletion was found. Theclinical findings of the patient will be presented in detail andgenotype-phenotype correlations will be discussed.