Chromosomal studies or cytogenetics is an important laboratory procedure for the diagnosis and treatment of patients with developmental delay, mental retardation, unexplained major or minor malformations, developmental delay,abnormalities of sexual development, infertility, recurrent pregnancy loss, bad obstetric history, prenatal diagnosis and cancer.
Cytogenetic testing is done to obtain chromosomes from different types of cells such as lymphocytes, amniocytes, bome marrow cells etc. Giemsa-banded chromosomes in their metaphase stage are studied to identify both structural and numerical abnormalities.
Normal male karyotype Normal female karyotype
Male karyotype with Down Syndrome Male karyotype with a balanced translocation between chromosomes 8 and 14