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Quick Answer: What is the phenotype of 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.

What are the phenotypic effects of Turner syndrome?

TS is associated with abnormalities of the X chromosome and characteristic clinical features of short stature, gonadal dysgenesis, sexual developmental deficiencies, cardiac and/or renal defects, webbed neck, low-set ears, skeletal deformities including cubitus valgus, a propensity to ear infections and hearing

What is the genotype for Turner’s syndrome?

Turner syndrome (TS), also known as 45,X, or 45,X0, is a genetic condition in which a female is partly or completely missing an X chromosome. Signs and symptoms vary among those affected.

What type of mutation is Turner syndrome?

In girls who have Turner syndrome, one copy of the X chromosome is missing, partially missing or altered. The genetic alterations of Turner syndrome may be one of the following: Monosomy. The complete absence of an X chromosome generally occurs because of an error in the father’s sperm or in the mother’s egg.

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What is the karyotype of Turner’s syndrome?

Turner syndrome is sporadic. A majority of cases ascertained prenatally have a 45,X karyotype. Paternal nondisjunction accounts for ∼70% of liveborn cases with a 45,X.

Where does Nondisjunction occur in Turner syndrome?

Nondisjunction may occur during meiosis I or meiosis II. Aneuploidy often results in serious problems such as Turner syndrome, a monosomy in which females may contain all or part of an X chromosome.

What phenotype means?

The term “phenotype” refers to the observable physical properties of an organism; these include the organism’s appearance, development, and behavior. An organism’s phenotype is determined by its genotype, which is the set of genes the organism carries, as well as by environmental influences upon these genes.

How does Turner syndrome occur?

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.

Is PP genotype or phenotype?

There are three available genotypes, PP ( homozygous dominant ), Pp (heterozygous), and pp (homozygous recessive). All three have different genotypes but the first two have the same phenotype (purple) as distinct from the third (white).

What type of aneuploidy is responsible for Turner syndrome in humans?

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 body systems are affected by Turner syndrome?

About 30 percent of females with Turner syndrome have extra folds of skin on the neck (webbed neck ), a low hairline at the back of the neck, puffiness or swelling (lymphedema ) of the hands and feet, skeletal abnormalities, or kidney problems.

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Is Turner syndrome caused by deletion?

In rare cases, Turner syndrome may be caused by a missing piece (partial deletion ) of the X chromosome. A deletion can be inherited from a parent. Genetic testing of an affected fetus or child can identify the type of Turner syndrome present and may help to estimate the risk of recurrence.

Can Turner syndrome be detected by a karyotype?

A diagnosis of Turner syndrome is often confirmed by chromosomal analysis, which is usually achieved by determining the karyotype. Karyotyping is a laboratory test that evaluates the number and structure of chromosomes. Karyotyping can be done on almost any type of tissue.

What is the role of a karyotype?

Karyotype is a test to identify and evaluate the size, shape, and number of chromosomes in a sample of body cells. Extra or missing chromosomes, or abnormal positions of chromosome pieces, can cause problems with a person’s growth, development, and body functions.

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