Jacob syndrome (45X/47XXY Mosaicism): Case Report
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Objective: The XYY syndrome is a rare chromosomal aneuploidy that affects males with an incidence of 1 in 1000. Males with this syndrome typically appear normal and have normal sexual responsiveness and fertility. However, they may be taller than average and have a variable risk of cognitive and behavioral deficits. herein, we report a rare case of XYY aneuploidy presenting with ambiguous genitalia which was initially treated as congenital adrenal hyperplasia.
Methods: A 7-month-old infant was referred by a pediatrician to the Endocrine OPD with complaints of ambiguous genitalia and undescended testes, after taking the consent detailed history was taken and previous medical record reviewed followed by detailed examination done. As the suspicion of the chromosomal defect was raised, the patient was advised to do karyotyping.
Results: The karyotyping counted 30 cells: 21 cells showed 45 while 09 cells showed 47 chromosomes. thus, the diagnosis of Jacobs syndrome was made and confirmed.
Conclusion: Most cases of 47XYY syndrome are not inherited but arise as a random event, mostly by paternal disjunction at meiosis II. Most of the patients lives normal life, however, requires conservative management of their behavioral deficits.
Key Words: 47XYY, Chromosomes abnormality, Karyotyping, Aneuploidy, Non-disjunction
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