Karyotype researching
Karyotyping – Chromosome Analysis for Reproductive Health and Genetics
A karyotype is the complete set of chromosomes that reflects the full range of characteristics specific to a biological species — including the number, size, shape, and structural features of the chromosomes.
Karyotyping (or chromosome analysis) is performed once in a lifetime, as a person’s chromosome set does not change. While millions of mutations may occur in the body over time, these do not alter the karyotype.
A normal human karyotype includes 46 chromosomes, arranged into 23 pairs.
- 22 pairs are autosomes, identical in both males and females.
- The 23rd pair are sex chromosomes, which determine biological sex:
- Females have two identical sex chromosomes: XX
- Males have two different sex chromosomes: XY
- The X chromosome is larger and symmetrical, while the Y chromosome is smaller and rod-shaped.
(Note: This pattern is species-specific — in some birds, fish, and butterflies, females have XY and males have XX.)
In normal notation:
- Female karyotype = 46,XX
- Male karyotype = 46,XY
When Is Karyotyping Recommended?
- Infertility – to detect chromosomal rearrangements that may affect conception or increase the risk of chromosomal disorders in offspring
- Recurrent miscarriage
- Children showing signs of genetic disorders
- Pregnancy – if a woman is in a high-risk group after non-invasive prenatal screening
- Family history of genetic diseases
How Is Karyotyping Performed?
The most common material used for karyotyping in adults is blood.
Lymphocytes are analyzed during metaphase — the stage of cell division when chromosomes are most visible under a light microscope.
Outside of cell division, DNA is uncoiled inside the nucleus and cannot be analyzed with this method.
During the procedure:
- Chromosomes are photographed under a microscope
- Images are analyzed and arranged into a systematic karyotype
- Chromosome pairs are numbered in order of decreasing size
- Sex chromosomes are listed last
- Each chromosome is oriented with its short arm at the top
What Happens if the Karyotype Is Abnormal?
Chromosomal abnormalities can result in:
- Severe developmental disorders
- Genetic syndromes
- Early miscarriage (often within the first trimester)
- In rare cases (~3%), pregnancies with abnormal karyotypes may continue to term
Common Chromosomal Abnormalities:
- Trisomy – Three copies of a chromosome instead of two
- Examples:
- Down syndrome (Trisomy 21): 47,XX,+21 or 47,XY,+21
- Klinefelter syndrome: 47,XXY
- Edwards syndrome: Trisomy 18
- Patau syndrome: Trisomy 13
- Examples:
- Monosomy – Missing one chromosome from a pair
- Example:
- Turner syndrome: 45,XO
- Example:
- Deletions – Loss of part of a chromosome
- (For example, Y-chromosome deletion may lead to male infertility)
- Duplications – Extra copies of a chromosome segment
- Inversions – A chromosome segment is reversed
- Translocations – A chromosome segment is transferred to another chromosome
Why Choose IPF Clinic for Karyotyping?
Karyotyping is a complex and highly specialized procedure. At IPF Medical Center, we use state-of-the-art equipment and have a team of top-level cytogenetic specialists.
Only a clinical geneticist is qualified to interpret karyotype results and provide accurate medical advice or prognosis.
Whether you’re planning a pregnancy, facing fertility challenges, or need clarification about genetic risks — we are here to help, even in the most difficult cases.
Your health, your family, your future — in expert hands.
Karyotype researching
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