Jacobs syndrome
Jacobs Syndrome[edit | edit source]
Jacobs Syndrome, also known as 47,XYY syndrome, is a rare chromosomal disorder that affects males. It is characterized by the presence of an extra Y chromosome, resulting in a 47,XYY karyotype instead of the typical 46,XY.
Genetics[edit | edit source]
Jacobs Syndrome is caused by nondisjunction during paternal meiosis II, leading to the formation of sperm cells with an extra Y chromosome. When such a sperm cell fertilizes a normal egg, the resulting zygote has an extra Y chromosome. This condition is not inherited but occurs as a random event during the formation of reproductive cells.
Symptoms[edit | edit source]
Individuals with Jacobs Syndrome may exhibit a range of symptoms, although many are asymptomatic. Common features include:
- Tall stature
- Learning difficulties, particularly in language and reading
- Delayed development of motor skills
- Behavioral issues, such as impulsivity or hyperactivity
- Normal fertility and sexual development
Diagnosis[edit | edit source]
Diagnosis of Jacobs Syndrome is typically made through karyotyping, which can identify the presence of an extra Y chromosome. Prenatal diagnosis is possible through procedures such as amniocentesis or chorionic villus sampling.
Management[edit | edit source]
There is no cure for Jacobs Syndrome, but management focuses on addressing specific symptoms and may include:
- Educational support for learning difficulties
- Speech and language therapy
- Behavioral therapy
- Regular medical check-ups to monitor growth and development
Epidemiology[edit | edit source]
Jacobs Syndrome occurs in approximately 1 in 1,000 male births. It is not associated with any specific ethnic or geographic population.
History[edit | edit source]
The condition was first described in 1961 by Dr. Patricia Jacobs, who identified the extra Y chromosome in a male patient. Since then, research has expanded our understanding of the syndrome and its effects.
See Also[edit | edit source]
==
- National Institutes of Health. "47,XYY Syndrome." Genetics Home Reference. Accessed October 2023.
- Jacobs, P. A., et al. "A Case of Human Intersexuality Having a Possible XXY Sex-Determining Mechanism." Nature, 1961.
NIH genetic and rare disease info[edit source]
Jacobs syndrome is a rare disease.
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