What is the phenotype for Turner syndrome?
What is the phenotype for 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 is the most common karyotype for 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.
What is the chromosome count for 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 it called when you have 45 chromosomes?
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 23 rd pair.
What gene is affected by Turner’s syndrome?
Researchers believe that the loss of one SHOX gene on the altered X chromosome is the main cause of short stature in females with Turner syndrome.
What happens if you have 45 chromosomes?
Turner syndrome (also known as monosomy X) is a condition caused by monosomy . Women with Turner syndrome usually have only one copy of the X chromosome in every cell, for a total of 45 chromosomes per cell. Rarely, some cells end up with complete extra sets of chromosomes.
Can Turner syndrome be detected by karyotyping?
Turner Syndrome is diagnosed by a blood test called karyotype.
What happens when you have 47 chromosomes?
Trisomy (‘three bodies’) means the affected person has three copies of one of the chromosomes instead of two. This means they have 47 chromosomes instead of 46. Down syndrome, Edward syndrome and Patau syndrome are the most common forms of trisomy.
What are the 46 chromosomes?
Humans have 22 pairs of numbered chromosomes (autosomes) and one pair of sex chromosomes (XX or XY), for a total of 46. Each pair contains two chromosomes, one coming from each parent, which means that children inherit half of their chromosomes from their mother and half from their father.
What does having 47 chromosomes mean?
A person with a trisomy has 47 chromosomes instead of 46. Down syndrome, Edward syndrome and Patau syndrome are the most common forms of trisomy.
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.