Akademik Veri Yönetim Sistemi
9th National Medical Genetics Congress of Turkish Medical Society with international Participation, 2010, İstanbul, Türkiye, 1 - 05 Aralık 2010, cilt.78, sa.1, ss.36-37
Deletion is loss of a chromosome segment, resulting in chromosome
imbalance. High-resolution banding techniques can
reveal deletions that are too small to be seen in ordinary metaphase
spreads. Even though the abnormality is detected cytogenetically,
this procedure has to be confirmed by molecular
techniques in order to correctly detect the genotype-phenotype
correlations. In this report we present a case of a six month
old baby with terminal deletion on long arm of chromosome
1. She was referred to us because of cleft palate, congenital
heart disease (Fallot tetralogy, atrial septum defect), microcephaly,
corpus callosum agenesis, asymmetric skull, dysplastic
ears and micrognathia. Cytogenetic analysis by high-resolution
banding revealed a terminal deletion on long arm of chromosome
1. FISH was performed to investigate different chromosomal
material on long arm of chromosome 1. The karyotype
showed 46,XX,del(1)(q43).ish del(1)(qtel) while the parents
had a normal karyotype. Array-CGH analysis (CytoSure 44K
Array) was performed in order to identify the deletion region
of chromosome 1 and 8.847 Mb gross deletion was found. The
clinical findings of the patient will be presented in detail and
genotype-phenotype correlations will be discussed.