Peripheral venous blood, bone marrow and biopsy materials are being used for chromosome analysis in this department.

Clinical indications for chromosome analysis:
1. Growth and development disorders in early-onset
Growth retardation, dysmorphic face, numerous malformations, ambiguous genitalia, short statue and mental retardation are not specific but common symptoms of children with chromosomal abnormalities.
2. Still birth and neonatal death
Incidence of chromosomes abnormalities is 10% in still births. This rate is 0.7% in live births. For this reason, chromosome analysis of stillborn infants or neonatal deaths should be performed to detect specific causes or exclude chromosomal abnormalities.
3. Fertility Problems
Chromosome analysis is recommended for a number of indications such as amenorrhea, infertility or recurrent miscarriages. Chromosome abnormalities are detected in infertiles or couples who have recurrent miscarriage experiences.
4. Family History
Presence or likelihood of a chromosome abnormality in first-degree relatives are accepted as chromosome analysis indication.
5. Cancer
Various cancer types are seen with one or multiple abnormal chromosomal structure. Chromosomal analysis of a specific tissue sample (tumor or bone marrow in malignant haematological diseases) may provide valuable diagnostic and prognostic information.

Chromosome abnormalities
• Structural Abnormalities
• Deletions
• Duplications
• Markers and ring chromosomes
• Isochromosomes
• Inversions
• Dicentric Chromosomes
• Translocations
• Mosaicism

Numerical Abnormalities
• Triploidi
• Tetraploidi
• Aneuploidy