Cytogenetics is a remarkable study to analyze the number and structure of human and animal chromosomes. Changes that affect the number and/or structure of the chromosomes can cause problems with growth, development, and body functions.

Chromosomal abnormalities can happen when egg and sperm cells are being made, during early fetal development, or after birth in any cell in the body. Changes to chromosome structure can disrupt genes, causing the proteins made from disrupted genes to be missing or faulty. Depending on size, location, and timing, structural changes in chromosomes can lead to birth defects, syndromes or even cancer. Alternatively, some chromosomal changes may have no effect on a person’s health.

Cytogenetic analyses are commonly performed during pregnancy to determine the common aneuplodies (syndromes caused by having extra or missing chromosomes), syndromes caused by structural abnormalities (like unbalanced translocations or inversions), or to determine if extra or missing genetic material is present through cytogenetic microarray testing.

The same cytogenetic analyses can be performed on a newborn or child with multiple anomalies or developmental delays to look for a potential chromosomal abnormality. Cytogenetic Analysis Results in more accurate diagnosis and discoveries of holistic treatments.

Today, the diagnosis and treatment of several leukemia’s and lymphomas, as well as some solid tumors, depends on cytogenetic analysis of specific chromosomal aberrations which consistently occur in these particular cancers.