What is XYY syndrome (Jacob’s syndrome) [supervised by a physician]?

 XYY症候群(ヤコブ症候群)とは 試験管 ビーカー 写真

What diseases are boys born with?”

I just found out my baby has XYY syndrome and now I’m going to have nothing but anxiety.”

This column article addresses these questions and concerns.

Summary of this article

XYY syndrome occurs in 1 in 1,000 people and occurs only in males. XYY syndrome is determined in the fetus, so it is not acquired. Symptoms include delayed speech and autism spectrum disorder, etc. There is no cure for XYY syndrome, so symptomatic treatment is recommended.

The gender of the fetus is known at 10 weeks.

A child’s life can be greatly affected by the actions of his or her parents.

The only solution to your questions and concerns is to study for your child.
Because the knowledge you have will change what you can offer your child.

This article is a simple explanation of XYY syndrome (Jacob’s syndrome).
*Referred to as XYY syndrome hereafter.

  • Pregnant mothers
  • People who want to know more about XYY syndrome in an easy-to-understand way.
  • A person whose baby has been diagnosed with XYY syndrome

This information is useful for

Without knowledge, we as parents would not be aware that our child is in the midst of suffering from the symptoms of XYY syndrome.
In addition, the anxiety that “the baby is born sick” puts stress on the mother’s body during pregnancy.
If you have the knowledge, you know how to deal with it.
The quicker it is dealt with, the less time the child will suffer from symptoms.
If the mother knows what to do, she will feel less anxious.
For the sake of the baby’s life and the mother’s health, learn more about XYY syndrome in this article.

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XYY syndrome is not life-threatening [features and risks].

Characterized by mild symptoms

Many of the features that appear in XYY syndrome do not affect daily life.
Most XYY syndrome symptoms are mild.

For example,

  • Above average height
  • IQ compared to family members is 10-15 points lower
  • Sexual development is not affected (can produce offspring).


Some people go their entire lives without knowing they have XYY syndrome.

Many have no problems building school or social relationships and have successful careers and families.

XYY症候群の特徴

XYY syndrome is not easily inherited.

If you or your child has XYY syndrome, XYY syndrome is unlikely to be inherited by the next generation.
The reason is that the occurrence of XYY syndrome is considered random.

Stated differently, it is possible for a healthy couple to have a boy with XYY syndrome.

Symptoms that are likely to appear

Symptoms that tend to appear in XYY syndrome are,

  • learning disability
  • Speech delay
  • Attention Deficit/Hyperactivity Disorder (ADHD)
  • autism spectrum disorder
  • asthma
  • Acne
  • Dental problems (larger than average teeth)

The above symptoms do not always appear and vary from person to person.
For example, some people appear two, while others do not appear at all.

Even when symptoms appear, as long as parents properly deal with and support their children, they will be able to lead a life similar to that of normal people.

XYY syndrome is a sex chromosome abnormality

Also known as Jacob’s syndrome, super male, or YY syndrome.

XYY syndrome occurs in 1 in 1,000 children and occurs only in males (boys).
XYY syndrome is determined in the fetus*1 and is not acquired.

1 Fetus: A child in the mother’s abdomen that has not yet been born.

Sex chromosome abnormalities are abnormalities of the blueprint

Sex chromosome aberration is a phenomenon in which one of the human chromosomes becomes abnormal.

Sex chromosomes are found in human cells*2.
Information that creates the human body is recorded, and the human body is created based on this information.

To use a metaphor, it is a blueprint of the human body.

If there is an abnormality in the blueprint, the body to be created will be affected.

2 Cells: The smallest parts of the body that make up various body parts. Everything in the body, from skin and organs to muscles and hair, is made up of cells.

Normal human chromosomes (46) = autosomes (44) + sex chromosomes (2)

Human chromosomes are divided into autosomes and sex chromosomes.

In healthy individuals, humans have 44 autosomes and 2 sex chromosomes.

Sex chromosomes and how to describe them [Gender is determined by the combination of X and Y].

Humans have two types of sex chromosomes, the X chromosome (hereinafter referred to as X) and the Y chromosome (hereinafter referred to as Y).
It determines gender.


Two sex chromosomes,

  • X and X(XX) would be women.
  • X and Y (XY) would be male

A healthy person would be described as 46,XY (male) or 46,XX (female).
It has 46 chromosomes, meaning the sex chromosomes are XY or XX.
In contrast, XYY syndrome has one additional sex chromosome, making three (normal has two).
You have one additional sex chromosome, so the total number of chromosomes is 47.

XYY syndrome is expressed as 47,XYY.
It has 47 chromosomes, meaning the sex chromosome is XYY.

Differences from Klinefelter’s syndrome

One sex chromosome abnormality that occurs only in males (boys) is Klinefelter’s syndrome.

What is the major difference between Klinefelter’s syndrome and XYY syndrome,

  • Sex chromosome type (XXY for Klinefelter syndrome)
  • Most men with Klinefelter’s syndrome are not fertile.

Since azoospermia is common in men with Klinefelter’s syndrome, ICSI is necessary to have a child.

Sex chromosome aberrations are random chromosome disjunctions [cause].

So what random occurrences can lead to XYY syndrome?

The answer is chromosome disjunction during meiosis.

In XYY syndrome, there is a chromosome disjunction, resulting in one more Y than normal.

Meiosis is cell division to produce sperm and eggs

To produce sperm and eggs, human cells undergo meiosis.
Meiotic cells are transformed into sperm and eggs.

When the male sperm and the female egg fertilize and grow, they become a fetus.

Meiosis cuts sex chromosomes in half.

In the production of human sperm and eggs, the amount of sex chromosomes in the cell is halved.
This is because it keeps the number of sex chromosomes constant.

Specifically,

  • If it is XX (female) cell, it will split into X cell and X cell and become an egg
  • If it is an XY (male) cell, it divides into an X cell and a Y cell, which becomes a sperm.

For clarity, the copying (replication) process in early meiosis is omitted.

One sex chromosome is passed from the X or Y sperm (father) and one from the female X or X egg (mother) to the child.
Suppose cells do not undergo meiosis and remain XX or XY to produce sperm or eggs.
The child will have four sex chromosomes, such as XXYX and XXXX.

In this case, there will be an infinite number of sex chromosomes to pass on to future generations.
The two human sex chromosomes do not add up.

In other words, meiosis allows us to maintain two human sex chromosomes.

Chromosome disjunctions create sperm with excess Y

Chromosome disjunction is an event in which chromosomes are not properly distributed to the sperm and egg, which occurs during meiosis.

When a sperm or egg is completed, the normal sex chromosome has only one X or Y chromosome.
In other words, there is one sex chromosome per cell.

However, chromosome disjunction is a condition in which the sperm or egg is XX or YY.

Suppose, for example, that YY’s sperm fertilizes X’s egg.
When this happens, the sex chromosome of the fetus is XYY (XYY syndrome).

Compared to normal XY, excess Y affects the human body.

About YY sperm [copied before mitosis, sex chromosomes doubled].

Have you ever wondered if there are not enough sex chromosomes to produce sperm with YY?
When a woman and a man are fertilized,

  • Two X oocytes.
  • One X sperm and one Y sperm.

I dared to mention the above for the sake of clarity.

However, in normal meiosis,

  • Four X oocytes
  • Two X sperm.
  • Two Y sperm.

This is because the amount of sex chromosomes is doubled by copying (duplication) before division.

With a doubling of the number of sex chromosomes, chromosome segregation occurs, resulting in sperm with YY.

sex chromosome abnormality

No treatment is available, parents are responsible for providing symptomatic treatment.

XYY syndrome cannot be treated fundamentally.
This is because no treatment has been discovered to replace the sex chromosomes themselves.

If symptoms of XYY syndrome are present, it would be the parent’s role to provide the child with symptomatic treatment.

Symptomatic treatment of typical symptoms

Speech delay

Rehabilitation (ryoiku) is recommended for delayed speech.
Rehabilitation is a system of helping children with disabilities to become independent.

The purpose of rehabilitation for delayed speech is to promote the understanding of language and the development of language production.

Specifically, students will practice listening comprehension and pronunciation.

Rehabilitation programs may exist in hospitals, or there are rehabilitation centers that specialize in rehabilitation.

Check now to see where it is located in your area.

autism spectrum disorder

We will provide medical care and education.

Other symptomatic treatments include

  • drug therapy
  • Applied Behavior Analysis (ABA)
  • hormone therapy
drug therapy

Medication is considered when panic occurs.
When panic interferes with life, such as self-harm, agitation, and aggression, drug treatment is used.

Applied Behavior Analysis (ABA)

Applied Behavior Analysis (ABA) is a method of analyzing what “triggers” a child’s behavior.
If the “trigger” is identified through analysis, it will be easier for the child to take good actions.
If we can identify the ‘triggers’ for bad behavior, we can lose the ‘triggers’ and reduce the child’s bad behavior.

hormone therapy

Oxytocin has been the focus of much attention as a hormone therapy.
Oxytocin as a nasal spray (sprayed into the nostrils) may help with interpersonal communication problems.

Attention Deficit/Hyperactivity (ADHD)

ADHD Treatment,

  • Behavioral Interventions
  • Environmental Intervention
  • drug therapy

The three are combined together.

In particular, behavioral and environmental interventions are treatments that require parental support.

Behavioral Interventions

Behavioral intervention is a way for parents to respond explicitly to their child’s behavior and control their child’s behavior.
One example is to praise or reward the child when he or she performs a praiseworthy behavior.
In contrast, if a child behaves in an undesirable manner, we scold him or her to prevent him or her from doing so.

Environmental Intervention

Environmental interventions are coping strategies to create an environment in which the child can concentrate.
This is because children with ADHD have difficulty concentrating.
For example, adjusting the position of desks and number of postings in the classroom.

drug therapy

Drug therapy has been suggested to be effective with methylphenidate.
This drug may lighten the inattention, hyperactivity, and impulsivity of ADHD.

Nonconfirmatory tests followed by confirmatory tests [prenatal testing procedures].

Nonconclusive tests carry little risk of miscarriage or stillbirth.

The reason for the low risk is that the test is performed only with maternal blood samples.

For nonconfirmatory testing for XYY syndrome,NIPT (neonatal prenatal diagnosis)are known.

Nonconclusive tests are not the only tests that can reliably identify XYY syndrome.

However, this test is recommended for those who want to check first because there is little risk to the mother and baby.

NIPT (neonatal prenatal diagnosis)

A blood sample is taken after the first trimester (usually after 10 weeks of pregnancy).
Results are known in about 2 to 10 days, and the cost is approximately 70,000 yen.

The diagnosis is either ‘positive’ or ‘negative’.

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Definitive testing risks miscarriage or stillbirth.


This is because to extract amniotic fluid and chorionic villi, needles are inserted deep into the body.
There is a risk of water breaking, bleeding, or harming the baby due to the needle.

The definitive test is,NIPT (New Prenatal Diagnosis)When the result of the “+” is positive.

For definitive testing,

  • Chorionic villus examination
  • Amniotic fluid examination

There are

With early treatment, children can live without suffering from symptoms.

There are things you can do now as a parent to help your child live comfortably.
Before your baby is born, you should know about the disease and your child’s genetic information.

This is because when symptoms appear, they can be dealt with immediately.

As a specific preparation,


NormalNIPT (New Prenatal Diagnosis)and XYY syndrome will be difficult to test for.
However, [XYY syndrome (Jacob’s syndrome)] is,Hiro Clinic NIPTNIPT (New Prenatal Diagnosis)The inspection can be performed at

Specifically, a sex chromosome test will tell you.

Hiro Clinic NIPT costs and features
Discover the costs and features of Non-Invasive Prenatal Testing (NIPT) at Hiro Clinic. Our transparent pricing and adva...

Why not prepare your child before he or she is born so that he or she does not suffer from the symptoms?

[References]

Article Editorial Supervisor


Dr Hiroshi Oka

Dr Hiroshi Oka

NIPT specialist clinic, MD

Graduated from Keio University, School of Medicine

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