What Is Turner Syndrome In Biology

What Are The Symptoms Of Turner Syndrome

The main symptom of Turner syndrome is short stature. Almost all females with TS:

• Grow more slowly than their peers during childhood and adolescence.
• Have delayed puberty and lack of growth spurts, resulting in an average adult height of 4 feet, 8 inches. .

Another symptom is not experiencing typical sexual development. Most females with TS:

• Don’t experience breast development.

• Unusually short, wide neck or webbed neck .

What Causes Ts In A Child

When a baby is conceived, a normal egg cell and normal sperm cell start with 46 chromosomes. The egg and sperm cells then divide in half. The egg and sperm cells then have 23 chromosomes each. When a sperm with 23 chromosomes fertilizes an egg with 23 chromosomes, the baby will then have a complete set of 46 chromosomes, or 23 pairs. Half are from the father and half are from the mother. The 23rd pair is called the sex chromosomes. In females, the 23rd pair is two X chromosomes. In males, the 23rd pair is one X and one Y chromosome.

There are 2 types of Turner syndrome: monosomy X TS and mosaic TS. About half of all girls with Turner syndrome have a monosomy disorder. Monosomy means that a person is missing one chromosome in the pair. Instead of 46 chromosomes, the person has only 45 chromosomes. This means a girl with TS has only one X chromosome in her 23rd pair. Sometimes an error occurs when an egg or sperm cell is forming. This causes it to have a missing sex chromosome. But it is often an error that happened by chance when the father’s sperm cell was forming. The missing sex chromosome error can occur in either the mother’s egg cell or the father’s sperm cell.

How Can I Help My Child Live With Ts

If your baby girl is born with TS, there are things you can do to take care of yourself and your baby.

• Keep all appointments with your babys healthcare provider.

• Talk with your healthcare provider about other providers who will be part of your childs care. Your child may receive care from a multidisciplinary team that may include experts such as counselors, social workers, genetic counselors, physical therapists, and speech therapists.

• Think about having genetic testing and counseling to understand your risk.

• Tell others about your babys condition. Work with your childs healthcare provider to create a treatment plan.

• Reach out for support from local community services. Being in touch with other parents who have a daughter with TS can also be helpful.

• If your child has any of the complications listed above, she will need screening and monitoring at periodic intervals. Make sure you understand the monitoring schedule that applies to your child.

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Turner Syndrome: Genotype And Phenotype

• Study Details

This study examines the clinical and genetic factors related to Turner syndrome, a disorder of the sex chromosomes. Humans usually have 23 pairs of chromosomes-thin strands of DNA-in the nucleus of every cell, which contain genes that determine our hereditary makeup. One pair of chromosomes is the sex chromosomes, designated X and Y. Females usually have two X chromosomes however, patients with Turner syndrome have only a single X chromosome or one normal and one defective X or Y chromosome. This abnormality can cause medical problems such as short stature, premature ovarian failure and heart or kidney defects. Individuals with Turner syndrome have an increased risk of thyroid disorders, high blood pressure, diabetes mellitus, abnormal liver function, hearing loss and osteoporosis. This study will try to identify the genes responsible for the specific medical problems associated with the disorder.

Is Turner Syndrome Inherited

Turner syndrome is not usually inherited in families. Turner syndrome occurs when one of the two X chromosomes normally found in women is missing or incomplete. Although the exact cause of Turner syndrome is not known, it appears to occur as a result of a random error during the formation of either the eggs or sperm.

Humans have 46 chromosomes, which contain all of a person’s genes and DNA. Two of these chromosomes, the sex chromosomes, determine a person’s gender. Both of the sex chromosomes in females are called X chromosomes. Males have an X and a Y chromosome . The two sex chromosomes help a person develop fertility and the sexual characteristics of their gender.

In Turner syndrome, the girl does not have the usual pair of two complete X chromosomes. The most common scenario is that the girl has only one X chromosome in her cells. Some girls with Turner syndrome do have two X chromosomes, but one of the X chromosomes is incomplete. In another scenario, the girl has some cells in her body with two X chromosomes, but other cells have only one. This is called mosaicism.

Additional Resources for Turner Syndrome

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What Is Turner Syndrome In Children

Turner syndrome is a genetic disorder that occurs in girls. It causes many traits and problems. Girls with TS are shorter than most girls. They dont go through normal puberty as they grow into adulthood. They may also have other health problems such as heart or kidney problems. The seriousness of these problems varies from girl to girl. Many of the health problems affecting girls with Turner syndrome can be managed or fixed with treatment. Turner syndrome is rare. It occurs in about 1 in 2,000 to 2,500 girl babies.

What Is The Treatment For Turner Syndrome

During childhood and adolescence, girls may be under the care of a pediatric endocrinologist, who is a specialist in childhood conditions of the hormones and metabolism.

Growth hormone injections are beneficial in some individuals with Turner syndrome. Injections often begin in early childhood and may increase final adult height by a few inches.

Estrogen replacement therapy is usually started at the time of normal puberty, around 12 years to start breast development. Estrogen and progesterone are given a little later to begin a monthly ‘period,’ which is necessary to keep the womb healthy. Estrogen is also given to prevent osteoporosis.

Babies born with a heart murmur or narrowing of the aorta may need surgery to correct the problem. A heart expert will assess and follow up any treatment necessary.

Girls who have Turner syndrome are more likely to get middle ear infections. Repeated infections may lead to hearing loss and should be evaluated by the pediatrician. An ear, nose and throat specialist may be involved in caring for this health issue.

Regular health checks are very important. Special clinics for the care of girls and women who have Turner syndrome are available in some areas, with access to a variety of specialists. Early preventive care and treatment is very important.

Almost all women are infertile, but pregnancy with donor embryos may be possible.

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Diagnosis Of Turners Syndrome

• before birth usually if an amniocentesis has been performed or abnormalities are seen during an ultrasound
• at birth due to certain physical features
• in childhood when the young girl doesnt grow at a similar rate to her peers
• during the teenage years when puberty fails to arrive
• in adulthood during investigations for infertility.

• amniocentesis and chorionic villus sampling
• clinical history

• low hairline.

What Are Holandric Traits Brainly

These are the genes that are carried on the Y chromosome. They mainly code for testes, which secrete testosterone and are responsible for making an organism male. There are only a handful of genes on the Y chromosome holandric traits can only be passed from father to son, and holandric diseases are rare.

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What Effect Does The Barr Body Have In Relation To Female Turner Syndrome

Why do persons with Turner syndrome have developmental abnormalities, when normal XX-females do not, even though they only have 1 active X chromosome? From what I know, one X-chromosome is inactivated into a Barr body in normal XX-females, but these obviously don’t show the symptoms of Turner syndrome. What function does the inactive chromosome have?

The reason is that X-inactivation is not complete , and as many as 15-25% of X-linked genes escape silencing . This means that some genes on the Barr body are expressed in XX-females, although often at lower levels compared to the active X-chromosome, and this is part of the normal gene dosage. The “purpose” of X-inactivation is usually dosage compensation, so that genes are expressed equally in males and females . However, this is not true for all genes, and the ones that normally escape X-inactivation will be expressed in the incorrect dosage in X0 females. Some of these genes are thought to contribute to the symptoms of Turner syndrome.

It is also likely that the genes that escape silencing are involved in sex-linked traits, as stated in Carrell & Willard :

Cheng et al also point out that the expression of the genes that escape silencing is tissue-dependent, which suggests that the role these genes play in the symptoms of Turner syndrome is also tissue dependent.

Latest Women’s Health News

Turner syndrome is not usually inherited in families. Turner syndrome occurs when one of the two X chromosomes normally found in women is missing or incomplete. Although the exact cause of Turner syndrome is not known, it appears to occur as a result of a random error during the formation of either the eggs or sperm.

Humans have 46 chromosomes, which contain all of a person’s genes and DNA. Two of these chromosomes, the sex chromosomes, determine a person’s gender. Both of the sex chromosomes in females are called X chromosomes. Males have an X and a Y chromosome . The two sex chromosomes help a person develop fertility and the sexual characteristics of their gender.

In Turner syndrome, the girl does not have the usual pair of two complete X chromosomes. The most common scenario is that the girl has only one X chromosome in her cells. Some girls with Turner syndrome do have two X chromosomes, but one of the X chromosomes is incomplete. In another scenario, the girl has some cells in her body with two X chromosomes, but other cells have only one. This is called mosaicism.

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When Is Turner Syndrome Diagnosed

Healthcare providers may diagnose Turner syndrome at any stage of a childs development. Sometimes, the condition gets spotted before birth:

• Maternal serum screening is a blood draw from the mother. It checks for signs showing an increased chance of a chromosomal problem with the baby. This screening is more common in women who are pregnant at an older age.
• Amniocentesis and chorionic villous sampling check the amniotic fluid or tissue from the placenta. Healthcare providers perform a karyotype analysis on the fluid or tissue. The results could show that the baby has Turner syndrome.
• Ultrasound during pregnancy may show that the baby has some features of TS. The healthcare provider may see heart problems or fluid around the neck.

Other times, children receive a diagnosis soon after birth or during early childhood because of their symptoms. But some people arent diagnosed with Turner syndrome until they reach adulthood. These women may go through puberty and get their periods. But they often have early ovarian failure .

Characteristics Of Turner Syndrome

Females with Turner syndrome often have a wide range of symptoms and some distinctive characteristics. Almost all girls with Turner syndrome:

• are shorter than average
• have underdeveloped ovaries, resulting in a lack of monthly periods and infertility

As height and sexual development are the 2 main things affected, Turner syndrome may not be diagnosed until a girl fails to show sexual development associated with puberty, usually between the ages of 8 and 14 years.

Other characteristics of Turner syndrome can vary significantly between individuals.

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What Are The Symptoms Of Ts In A Child

During a pregnancy, the healthcare provider may have seen a structure called a cystic hygroma during a fetal ultrasound. A cystic hygroma is a fluid-filled sac at the base of the neck. It often goes away before birth. But sometimes the sac is there when the baby is born.

Girls with TS often have:

• Puffy hands and feet at birth

• Wide neck with folds of skin down the sides of neck

• Short height

• Eye problems requiring glasses

What Are The Symptoms For Turner Syndrome

Girls who have Turner syndrome are shorter than average. They often have normal height for the first three years of life, but then have a slow growth rate. At puberty they do not have the usual growth spurt.

Non-functioning ovaries are another symptom of Turner syndrome. Normally a girl’s ovaries begin to produce sex hormones at puberty. This does not happen in most girls who have Turner syndrome. They do not start their periods or develop breasts without hormone treatment at the age of puberty.

Even though many women who have Turner have non-functioning ovaries and are infertile, their vagina and womb are totally normal.

In early childhood, girls who have Turner syndrome may have frequent middle ear infections. Recurrent infections can lead to hearing loss in some cases.

Girls with Turner Syndrome are usually of normal intelligence with good verbal skills and reading skills. Some girls, however, have problems with math, memory skills and fine-finger movements.

Additional symptoms of Turner syndrome include the following:

A diagnosis of Turner syndrome may be suspected when there are a number of typical physical features observed such as webbed neck, a broad chest and widely spaced nipples. Sometimes diagnosis is made at birth because of heart problems, an unusually wide neck or swelling of the hands and feet.

The two main clinical features of Turner syndrome are short stature and the lack of the development of the ovaries.

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Human 45x Fibroblast Transcriptome Reveals Distinct Differentially Expressed Genes Including Long Noncoding Rnas Potentially Associated With The Pathophysiology Of Turner Syndrome

• Contributed equally to this work with: Shriram N. Rajpathak, Shamsudheen Karuthedath Vellarikkal

  ¶SR and SKV are joint first authors on this work.

  Affiliation Centre of Advanced Studies, Department of Zoology, University of Pune, Pune, India

• Contributed equally to this work with: Shriram N. Rajpathak, Shamsudheen Karuthedath Vellarikkal

  ¶SR and SKV are joint first authors on this work.

  Affiliations Genomics and Molecular medicine, CSIR Institute of Genomics and Integrative Biology, Delhi, India, Academy of Scientific and Innovative Research , Anusandhan Bhawan, 2 Rafi Marg, New Delhi, India

• Affiliation GN Ramachandran Knowledge Centre for Genome Informatics, CSIR Institute of Genomics and Integrative Biology, Delhi, India

• * E-mail:

  Affiliations GN Ramachandran Knowledge Centre for Genome Informatics, CSIR Institute of Genomics and Integrative Biology, Delhi, India, Academy of Scientific and Innovative Research , Anusandhan Bhawan, 2 Rafi Marg, New Delhi, India

• * E-mail:

  Affiliations Genomics and Molecular medicine, CSIR Institute of Genomics and Integrative Biology, Delhi, India, Academy of Scientific and Innovative Research , Anusandhan Bhawan, 2 Rafi Marg, New Delhi, India

Who Should Be On My Childs Care Team For Turner Syndrome

Treatment for Turner syndrome depends on each childs specific symptoms and development. A coordinated care team can provide the most comprehensive, effective care. The team will look at the whole picture and tailor a plan that works for your child.

Usually, children with Turner syndrome work with their pediatricians. They also receive evaluation and monitoring from pediatric endocrinologists. These hormone specialists can provide recommendations on how to treat hormone deficiencies.

Other pediatric specialists may include:

• Cardiologist.
• Speech pathologist.
• Surgeon.

Parents can help the care team by keeping growth charts and tracking other symptoms. Its also a good idea for families to get genetic counseling.

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How Is Ts Treated In A Child

There is no cure for TS. But many of the more serious problems can be treated. For example, growth hormone and androgen therapy can increase the final adult height of a girl. She can also take hormone therapy to develop secondary sex traits such as breasts, pubic hair, and underarm hair. Surgery can fix coarctation of the aorta, if needed. And medicines are available to treat high blood pressure, diabetes, and thyroid problems. A woman with TS can have children by using donor eggs.

What Should I Ask My Healthcare Provider

If your child has Turner syndrome, ask your provider:

• What are the treatment options?
• What are the risks and benefits of growth hormone injections and other hormone treatments?
• When should hormone treatments begin?
• What other medical conditions is my child at risk for?
• What specialists should be on her care team?
• What type of learning or developmental disabilities may occur?

A note from Cleveland Clinic

Turner syndrome is the most common sex chromosomal disorder affecting girls and women. TS happens when the X chromosome is completely or partially missing. Its a sporadic problem, meaning it happens randomly. The problem often occurs in the parents egg or sperm during fertilization. Theres nothing you can do to prevent it. Symptoms of Turner syndrome include short stature and lack of sexual development. Girls often dont develop breasts or get their periods. A combination of therapies can help women with TS live a good quality of life. Treatment may include hormone therapy to help with growth and development. If you have concerns about your childs growth or notice other symptoms, talk to your healthcare provider.

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