Genetic Diagnosis of Chromosomal Congenital Anomalies in Albanian Pediatric Patients by Array CGH.

Aim: The aim of our study was to identify chromosomal imbalances by whole-genome microarray-based comparative genomic hybridization (array CGH) in DNA samples of children in which karyotype results cannot be obtained. The present paper describes the first Albanian experience of an array CGH application.

Material And Methods: The cohort included seven children with developmental delay or intellectual disability, facial dysmorphism and congenital anomalies according to clinical criteria, suggestive of chromosomal anomalies.

Molecular Genetic Characterization of β-Thalassemia and Sickle Cell Syndrome in the Albanian Population.

β-Thalassemia (β-thal) is a major public health problem in Albania as it is in many Mediterranean countries. We determined the different β-thal alleles that are present in the Albanian population by using the temporal temperature gradient electrophoresis (TTGE) method because of its high throughput, cost-effectiveness, sensitivity and simplicity. DNA from blood of 68 patients with β-thal, 26 with sickle cell anemia or sickle cell β-thal, 54 parents of these patients and 14 heterozygotes related to these families.