Mosaic trisomy 13 and constitutional delay in puberty
Sara Yousif Hussein Eltayeb1, Alaaeldin Bashier2, Azza Abdulaziz Khalifa Bin Hussain2
1Internal Medicine Department, Rashid Hospital, P.O Box 4545, Dubai, United Arab Emirates.
Oxford Medical Case Reports
|May 27, 2022
Summary
Mosaic trisomy 13, a milder form of Patau syndrome, may present with delayed puberty. This case report suggests a potential link between this chromosomal abnormality and hypogonadotropic hypogonadism in affected individuals.
Area of Science:
- Genetics
- Endocrinology
- Pediatrics
Background:
- Patau syndrome (trisomy 13) is a severe chromosomal disorder with high neonatal mortality.
- Trisomy 13 mosaicism presents a milder phenotype, potentially allowing longer survival and pubertal development.
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