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Chromosomal Analysis (Karyotype)

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Chromosomal Analysis (Karyotype)

What is a Chromosome?

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.

What is Chromosomal Analysis (Karyotype)?

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.

Most Common Chromosomal Disorders

• Down Syndrome (Trisomy 21)
• Klinefelter Syndrome (47,XXY)
• Turner Syndrome

Who Should Consider Chromosomal Analysis (Karyotype)?

• 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

Sample Types for Analysis

• 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).