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A doctor told a couple that their son is suffering from a genetic disease, which is caused by a deletion on the short arm of chromosome 5. The son of the couple must be suffering from
- a)Turner syndrome
- b)Williams syndrome
- c)Down syndrome
- d)Cri-du-chat
Correct answer is option 'D'. Can you explain this answer?
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Most Upvoted Answer
A doctor told a couple that their son is suffering from a genetic dis...
Explanation:
Genetic diseases are caused by abnormalities in an individual's DNA or chromosomes. In this case, the doctor has told the couple that their son is suffering from a genetic disease caused by a deletion on the short arm of chromosome 5. This indicates that the son is suffering from Cri-du-chat syndrome.
Cri-du-chat syndrome:
Cri-du-chat syndrome, also known as 5p- syndrome, is a rare genetic disorder caused by a deletion on the short arm of chromosome 5. The name "Cri-du-chat" comes from the French term for the distinctive cry of affected infants, which sounds like a cat's meow.
Symptoms of Cri-du-chat syndrome:
The symptoms of Cri-du-chat syndrome vary from person to person and can range from mild to severe. Some common symptoms include:
- Microcephaly (small head size)
- Developmental delay or intellectual disability
- Low birth weight and slow growth
- High-pitched and distinctive cry
- Facial abnormalities, including a small head, low-set ears, and widely spaced eyes
- Heart defects
- Hypotonia (low muscle tone) and weak muscle strength
- Speech and language delays
Diagnosis:
Cri-du-chat syndrome can be diagnosed through a genetic test called a chromosome analysis, which looks for abnormalities in an individual's chromosomes.
Treatment:
There is no cure for Cri-du-chat syndrome, and treatment focuses on managing the symptoms and providing support for the affected individual and their family. This may include early intervention programs, speech and language therapy, physical therapy, and special education services.
Genetic diseases are caused by abnormalities in an individual's DNA or chromosomes. In this case, the doctor has told the couple that their son is suffering from a genetic disease caused by a deletion on the short arm of chromosome 5. This indicates that the son is suffering from Cri-du-chat syndrome.
Cri-du-chat syndrome:
Cri-du-chat syndrome, also known as 5p- syndrome, is a rare genetic disorder caused by a deletion on the short arm of chromosome 5. The name "Cri-du-chat" comes from the French term for the distinctive cry of affected infants, which sounds like a cat's meow.
Symptoms of Cri-du-chat syndrome:
The symptoms of Cri-du-chat syndrome vary from person to person and can range from mild to severe. Some common symptoms include:
- Microcephaly (small head size)
- Developmental delay or intellectual disability
- Low birth weight and slow growth
- High-pitched and distinctive cry
- Facial abnormalities, including a small head, low-set ears, and widely spaced eyes
- Heart defects
- Hypotonia (low muscle tone) and weak muscle strength
- Speech and language delays
Diagnosis:
Cri-du-chat syndrome can be diagnosed through a genetic test called a chromosome analysis, which looks for abnormalities in an individual's chromosomes.
Treatment:
There is no cure for Cri-du-chat syndrome, and treatment focuses on managing the symptoms and providing support for the affected individual and their family. This may include early intervention programs, speech and language therapy, physical therapy, and special education services.
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Community Answer
A doctor told a couple that their son is suffering from a genetic dis...
Cri-du-chat is caused by a deletion (the length of which may vary) on the short arm of chromosome 5. Multiple genes are missing, as a result of this deletion and each may contribute to the symptoms of the disorder. One of the deleted genes is TERT (telomerase reverse transcriptase).
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A doctor told a couple that their son is suffering from a genetic disease, which is caused by a deletion on the short arm of chromosome 5. The son of the couple must be suffering froma)Turner syndromeb)Williams syndromec)Down syndromed)Cri-du-chatCorrect answer is option 'D'. Can you explain this answer?
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