A chromosome is a structure within the cell nucleus in which DNA is tightly wrapped and organized by specialized proteins. Healthy human cells contain 46 chromosomes inherited from the parents: 44 autosomal chromosomes and 2 sex chromosomes (X and Y).
• In females, the sex chromosomes are XX
• In males, the sex chromosomes are XY
Changes in the structure or number of chromosomes can cause various diseases and developmental disorders.
Chromosomal analysis, or karyotyping, examines the number and structure of a person’s chromosomes. This analysis can identify abnormalities in individuals with health issues. These abnormalities may affect growth, development, organ function, or reproductive health.
• Down Syndrome (Trisomy 21)
• Klinefelter Syndrome (47,XXY)
• Turner Syndrome
• Men or women experiencing infertility
• Individuals with recurrent miscarriages
• People with sexual or reproductive abnormalities
• Individuals with intellectual developmental disorders
• Patients with growth or cranial development problems
• Those with leukemia or other genetic risk factors
• Blood
• Buccal (cheek) cells
• Amniotic fluid (AF)
• Chorionic villus sampling (CVS)
• Placental blood (PB)
For women, usually two or three samples are recommended, along with analysis of amniotic fluid from the parents if there is a risk or ultrasound anomalies (e.g., nuchal translucency, cystic hygroma, congenital heart defects).