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Which condition is caused by chromosomal deletion?
One condition caused by chromosomal deletion is Cri-du-chat syndrome, which results from a deletion on the short arm of chromosome 5. This syndrome is characterized by intellectual disability, distinctive facial features, and a cat-like cry in infants.
What is turners disease not turners syndrome that can affect males?
Turner's disease is a rare genetic condition that can affect males, characterized by short stature and infertility due to chromosome abnormalities. This condition is also known as Noonan syndrome. Symptoms can vary but often include heart defects, developmental delays, and distinctive facial features. Treatment aims to manage symptoms and complications associated with the condition.
What is an example of a disorder associated with an error in the number of chromosomes present?
Down syndrome (trisomy 21) is a disorder associated with an error in the number of chromosomes present. Other examples of disorders associated with an error in the number of chromosomes are Trisomy 18 (Edwards Syndrome), Trisomy 13 (Patau Syndrome), Triple X syndrome, and Klinefelter Syndrome.
What chromosome is Proteus syndrome located?
Proteus syndrome is not caused by a specific gene on a particular chromosome; instead, it is thought to be due to a somatic mutation (mutation occurring after fertilization) in the AKT1 gene. This mutation leads to overgrowth of certain tissues in the body, resulting in the characteristic features of the syndrome.
What can an extra chromosome do?
Having an extra chromosome, known as trisomy, can lead to genetic disorders such as Down syndrome (trisomy 21) or Edwards syndrome (trisomy 18). These disorders can affect physical and intellectual development, leading to characteristic features and health challenges. The specific impact of an extra chromosome varies depending on which chromosome is affected.
What is cased by an extra copy of chromosome 21?
Also referred to as trisomy 21. Down Syndrome.
What chromosome is gene located for marfan syndrome?
The gene associated with Marfan syndrome is located on chromosome 15. It is called the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Mutations in this gene can lead to the characteristic features of Marfan syndrome.
Who carries the cri du chat defective chromosome?
Individuals with Cri du Chat syndrome carry a deletion on the short arm of chromosome 5, specifically the region known as 5p15.2. This deletion leads to developmental and intellectual disabilities as well as characteristic facial features associated with the syndrome.
How do the cells of people with down syndrom differ from those of others?
People with Down syndrome have an extra copy of chromosome 21 in their cells, leading to 47 chromosomes instead of the usual 46. This genetic condition can result in various physical and cognitive differences, such as distinctive facial features and intellectual disabilities, compared to individuals without Down syndrome.
Which condition is caused by chromosomal deletion?
One condition caused by chromosomal deletion is Cri-du-chat syndrome, which results from a deletion on the short arm of chromosome 5. This syndrome is characterized by intellectual disability, distinctive facial features, and a cat-like cry in infants.
What is turners disease not turners syndrome that can affect males?
Turner's disease is a rare genetic condition that can affect males, characterized by short stature and infertility due to chromosome abnormalities. This condition is also known as Noonan syndrome. Symptoms can vary but often include heart defects, developmental delays, and distinctive facial features. Treatment aims to manage symptoms and complications associated with the condition.
What is an example of a disorder associated with an error in the number of chromosomes present?
Down syndrome (trisomy 21) is a disorder associated with an error in the number of chromosomes present. Other examples of disorders associated with an error in the number of chromosomes are Trisomy 18 (Edwards Syndrome), Trisomy 13 (Patau Syndrome), Triple X syndrome, and Klinefelter Syndrome.
Are there distinct facial features in Ehler Danlos type three?
No, there are no distinctive facial features recognized in Ehler Danlos Hypermobility Syndrome (type three.) Recognizable facial features, such as are associated with Marfan's Syndrome, another disorder of the connective tissues, might be useful for diagnosis. Perhaps the nearest thing to a distinct feature for EDS is soft, velvety skin.
Can you provide a description of Down syndrome and its characteristics?
Down syndrome is a genetic condition caused by an extra copy of chromosome 21. It is associated with physical features like slanted eyes, low muscle tone, and a flat facial profile. People with Down syndrome may also have intellectual disabilities and developmental delays.
Which condition results when cells receive three copies of chromosomes 21?
Down syndrome results when cells receive three copies of chromosome 21.
What are some distinctive facial features commonly associated with Indian individuals?
Some distinctive facial features commonly associated with Indian individuals include dark hair, dark eyes, a prominent nose, and a range of skin tones from fair to dark.
What chromosome is Proteus syndrome located?
Proteus syndrome is not caused by a specific gene on a particular chromosome; instead, it is thought to be due to a somatic mutation (mutation occurring after fertilization) in the AKT1 gene. This mutation leads to overgrowth of certain tissues in the body, resulting in the characteristic features of the syndrome.
