Which characteristic is commonly associated with Turner syndrome?

Turner syndrome is a chromosomal condition that affects development in females. The most common feature of Turner syndrome is short stature, which becomes evident by about age 5. An early loss of ovarian function (ovarian hypofunction or premature ovarian failure) is also very common.

Which of the following is the characteristic feature of Turner's syndrome?

Features of Turner syndrome may include a short neck with a webbed appearance, low hairline at the back of the neck, low-set ears, hands and feet that are swollen or puffy at birth, and soft nails that turn upward. Stature. Girls with Turner syndrome grow more slowly than other children.

What is the main cause of Turner syndrome?

Turner syndrome occurs when part or all of an X chromosome is missing from most or all of the cells in a girl's body. A girl normally receives one X chromosome from each parent. The error that leads to the missing chromosome appears to happen during the formation of the egg or sperm.

What are three symptoms of Turner's syndrome?

How do you detect Turner syndrome?

Karyotyping. Karyotyping is a test that involves analysing the 23 pairs of chromosomes. It's often used when Turner syndrome is suspected. The test can either be carried out while the baby is inside the womb – by taking a sample of amniotic fluid (amniocentesis) – or after birth by taking a sample of the baby's blood.

Turner Syndrome 101

Why do Turner syndrome have webbed neck?

Turner syndrome is caused by the absence of one set of genes from the short arm of one X chromosome. Generalized lymphedema is seen here in an infant with Turner syndrome. The loose skin folds around the neck will form a webbed neck later in life.

Which of the following human genotypes is associated with Turner syndrome?

About half of individuals with Turner syndrome have monosomy X , which means each cell in the individual's body has only one copy of the X chromosome instead of the usual two sex chromosomes. Turner syndrome can also occur if one of the sex chromosomes is partially missing or rearranged rather than completely absent.

What is a Monosomic condition?

Monosomy refers to the condition in which only one chromosome from a pair is present in cells rather than the two copies usually found in diploid cells.

What are the symptoms of monosomy?

The symptoms and physical findings associated with Chromosome 18, Monosomy 18p may be variable from case to case. However, the syndrome is typically characterized by short stature, mental retardation, various malformations of the skull and facial (craniofacial) region, and/or additional physical abnormalities.

Which of the following is an example of a monosomy?

Examples of monosomy in humans are Turner syndrome (usually with one X chromosome only and the other is missing), cri du chat syndrome (where the end of the short p arm of chromosome 5 is missing), and 1p36 deletion syndrome (where the end of the short p arm of chromosome 1 is missing). See also: ploidy.

What type of aneuploidy is Turner syndrome?

Monosomy is another type of aneuploidy in which there is a missing chromosome. A common monosomy is Turner syndrome, in which a female has a missing or damaged X chromosome.

What phenotypes are associated with Turner syndrome?

Turner's syndrome, or monosomy X, is defined as the total or partial loss of the second sex chromosome. The clinical phenotype is highly variable and includes short stature, gonadal dysgenesis, pterygium colli, cubitus valgus and low hairline.

Which combination will result Turner syndrome?

If you're a male, you are born with one X and one Y chromosome. Turner Syndrome occurs when one of the X chromosomes is missing, either partially or completely. Turner syndrome often causes short stature, typically noticeable by age 5.

Why does Turner syndrome have short stature?

Turner syndrome is one of the most common chromosomal disorders. It is caused by numerical or structural abnormalities of the X chromosome and results in short stature and gonadal dysgenesis. The short stature arises from haploinsufficiency of the SHOX gene, whereas overdosage contributes to tall stature.

What are some risk factors for Turner syndrome?

Risk Factors for Turner Syndrome

The loss or alteration of the X chromosome that causes Turner syndrome occurs randomly — sometimes as a result of problems with the father's sperm or the mother's egg and, for others, as a result of something that happens early in fetal development.

Is Turner's syndrome monosomy or trisomy?

Monosomy X, or Turner syndrome, occurs when a baby is born with only one X sex chromosome, rather than the usual pair (either two Xs or one X and one Y sex chromosome).

Is Turner syndrome a nondisjunction?

Turner syndrome (TS) is a complex phenotype associated with complete or partial monosomy of the X chromosome, usually the result of a sporadic chromosomal nondisjunction. TS is one of the most common sex chromosome abnormalities, affecting approximately 1 in 2,000 live born females [1–3].

What are the different types of Turner syndrome?

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.

What chromosome number is affected by Turner syndrome?

To diagnose Turner syndrome, doctors use a special blood test that looks at chromosomes, called a karyotype test (chromosomal analysis). Results that indicate TS show only one X chromosome instead of two X chromosomes, with a total of 45 chromosomes instead of the usual 46.

What is an interesting fact about Turner syndrome?

Turner syndrome was first discovered in 1938 by Dr. Henry Turner while studying a group of seven girls who all had the same unusual developmental and physical features. People with Turner syndrome have an abnormally short stature—the average height of a person with TS is 4 ft 8 in.

How does Turner syndrome affect growth?

Growth Deficit

Short stature is the single most common physical abnormality in Turner Syndrome, and individuals not treated with growth-promoting techniques achieve an adult stature 20 cm shorter than that of the normal population to a final height on average 4'7″.

Is growth hormone decreased in Turner syndrome?

Patients with Turner syndrome of all ages had decreased serum somatomedin-C concentrations and delayed bone ages. We conclude that a relative deficiency of growth hormone in pubertal patients with Turner syndrome may contribute to their adult short stature.

What is the cause of short stature?

Short stature may be either a variant of normal growth or caused by a disease. The most common causes of short stature beyond the first year or two of life are familial (genetic) short stature and delayed (constitutional) growth, which are normal, nonpathologic variants of growth.

What is Mosaic Turner syndrome?

Mosaic Turner syndrome (TS) is a condition in which cells inside the same person have different chromosome packages. Mosaic TS can affect any cell in the body. Some cells have X chromosomes and some don't. Every 3 out of every 10 girls with TS will have some form of Mosaic TS.

What are the characteristics of Turner syndrome Class 12?