A Case With Terminal Deletion On Long Arm Of Chromosome 1

Abstract

Deletion is loss of a chromosome segment, resulting in chromosomeimbalance. High-resolution banding techniques canreveal deletions that are too small to be seen in ordinary metaphasespreads. Even though the abnormality is detected cytogenetically,this procedure has to be confirmed by moleculartechniques in order to correctly detect the genotype-phenotypecorrelations. In this report we present a case of a six monthold baby with terminal deletion on long arm of chromosome1. She was referred to us because of cleft palate, congenitalheart disease (Fallot tetralogy, atrial septum defect), microcephaly,corpus callosum agenesis, asymmetric skull, dysplasticears and micrognathia. Cytogenetic analysis by high-resolutionbanding revealed a terminal deletion on long arm of chromosome1. FISH was performed to investigate different chromosomalmaterial on long arm of chromosome 1. The karyotypeshowed 46,XX,del(1)(q43).ish del(1)(qtel) while the parentshad a normal karyotype. Array-CGH analysis (CytoSure 44KArray) was performed in order to identify the deletion regionof chromosome 1 and 8.847 Mb gross deletion was found. Theclinical findings of the patient will be presented in detail andgenotype-phenotype correlations will be discussed.