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Jacob's Syndrome, Chromosome Disease in Men

Jacob's Syndrome is a condition of genetic mutations that occur in men. If normally every cell in the body has 46 chromosomes, sufferers of Jacob's syndrome have 47 chromosomes.

Of the 46 chromosomes available, two of them are known as X and Y chromosomes. The two chromosomes are also called sex chromosomes because they help determine the characteristics of males or females in humans. Women usually have two X chromosomes (XX), while men have one X chromosome and one Y chromosome (XY). Well, men with Jacob's syndrome have one additional Y chromosome, being XYY.

Causes of Jacob's Syndrome

The excess of one Y chromosome in patients with Jacob's syndrome may be caused by one unexpected thing during the formation of the father's sperm cells (for example two father's Y chromosomes do not separate) before fertilizing the mother's egg. It could also be because the child's Y chromosome does not divide into the early stages of embryonic development. Although there are genetic disorders, Jacob's syndrome is usually not inherited from generation to generation.

Signs of Jacob's Syndrome

What is clear, sufferers of Jacob's syndrome can be identified by its characteristics from the time he was small to adulthood, namely:

  • Infants: difficult or late speech, development of motor skills (crawling or walking) is delayed, and muscle weakness.
  • Small children or adolescents: more than average height, muscle weakness, trembling hands or muscles moving unconsciously, having emotional or behavioral problems, lack of speaking skills, delayed development of motor skills (writing), learning disabilities, severe breakouts, difficult to focus attention, and was diagnosed with autism.
  • Adult: possible infertility.
  • Other signs: the position of the ear under normal position (low-set ears), flat cheekbones, relatively thin body weight when compared with height, head size tends to be wide, development of language skills is late, and has a slightly lower IQ than most people.

Diagnosis of Jacob's Syndrome

Evaluation and analysis

The diagnosis of XYY syndrome or Jacob's syndrome is determined based on a thorough clinical evaluation, detailed patient history, and special tests such as chromosome analysis that detects the presence of extra Y chromosomes (47, XYY karyotype).

Prenatal diagnosis

The diagnosis of XYY syndrome can be made before birth through amniocentesis or chorionic villus sampling (CVS). During amniocentesis, fluid samples that surround the developing fetus are removed and analyzed, while CVS involves taking tissue samples from the placenta.

Can Jacob's Syndrome be cured?

This syndrome which is also referred to as XYY karyotype, YY syndrome, and 47 XYY syndromes cannot be treated or cured. Treatment can only help reduce symptoms and their effects, especially if diagnosed early. For example with speech therapy, physical and occupational therapy, and educational therapy. When they are adults, they can start consulting with reproductive specialists to overcome any infertility problems.

Read Also : Anticipating Uterine Infection as a Cause of Infertility

Also, hyperactivity disorder and lack of attention (Attention deficit and hyperactive disorder or ADHD), difficulty in social interaction, and other behavioral problems experienced by sufferers of Jacob's syndrome can be treated with therapy or medication. In most cases, sufferers of Jacob's syndrome respond well to these treatments and show improvement in the next few years.

Jacob's syndrome is often undiagnosed throughout one's life. If already diagnosed, they can seek and get help. And although it cannot be cured, sufferers of Jacob's syndrome can live a normal life with these conditions.

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