X/Y

X / Y

Sex chromosomes

Sex chromosomes X and Y are a fundamental part of our genetics and play a central role in determining an individual's sex as well as influencing various biological processes.

NIPT
NIPT test prenatal screening

NIPT

4 795 kr4 195 kr

The sex chromosomes, X and Y, determine whether a person is biologically born female or male and also have essential functions in the body. Females typically have two X chromosomes (XX), while males have one X and one Y chromosome (XY). The X chromosome contains many genes involved in both sex development and immune function. The Y chromosome is smaller, with fewer genes, mainly governing male characteristics.

If the number or structure of the sex chromosomes differs from the usual, this can lead to various genetic conditions. One example is Turner syndrome, where an individual has only one X chromosome instead of two, potentially affecting growth and fertility. Another example is Klinefelter syndrome, where a male has an extra X chromosome (XXY), which can lead to delayed puberty and reduced fertility.

Analyzing sex chromosomes is particularly important in cases of unexplained sex development, fertility issues, and during prenatal tests like NIPT, to detect chromosomal abnormalities. This type of analysis can also help confirm diagnoses of rare syndromes that affect sex development and hormone balance.

Diagnosis of Sex Chromosome Abnormalities

Diagnosis of sex chromosome abnormalities can be carried out using different methods, depending on the clinical need:

Prenatal Testing

  • NIPT: A blood test from the mother that analyzes fetal DNA and can identify abnormalities in the number or structure of sex chromosomes, including conditions like Turner or Klinefelter syndrome.
  • Amniocentesis: A sample of amniotic fluid is collected to identify chromosomal abnormalities, including changes in sex chromosomes.
  • Chorionic Villus Sampling (CVS): A sample from the placenta can provide early information about the fetal sex chromosome profile.

Postnatal Testing

After birth, sex chromosome abnormalities can be confirmed with a blood sample, where the child’s chromosomal profile is visualized through karyotyping. This analysis can identify any abnormalities that may affect the child’s health and development.

Genetic counseling is often offered to parents to provide information on the condition, which can be particularly valuable for understanding genetic risks in future pregnancies.

Tests containing the marker Sex chromosomes

Pregnancy tests

Pregnancy tests


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NIPT
NIPT test prenatal screening

NIPT

  • NIPT test for safe prenatal screening.
  • Blood test for identifying chromosomal abnormalities.
  • Early detection of abnormalities from week 10+0.
  • Analysis performed at an accredited laboratory.

4 795 kr4 195 kr