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Phenotype of 49,XXYYY
1Department of Pediatrics, All India Institute of Medical Sciences, New Delhi.
Clinical Genetics
|April 1, 1993
Summary
This report details a rare 49,XXYYY karyotype in a 7-year-old boy. The condition presented with distinct physical and developmental characteristics, including facial dysmorphism and cognitive impairment.
Area of Science:
- Genetics
- Pediatrics
- Human Karyotyping
Background:
- The 49,XXYYY karyotype is an extremely rare chromosomal abnormality.
- Understanding the phenotypic spectrum of supernumerary X chromosome aneuploidies is crucial for genetic counseling and clinical management.
Observation:
- A 7-year-old male patient presented with a 49,XXYYY karyotype.
- Clinical assessment revealed characteristic facial dysmorphism, mild microcephaly, and restricted elbow supination.
Findings:
- The patient exhibited delayed bone age, indicating potential endocrine or growth disturbances.
- Moderate intellectual disability was a significant finding, impacting cognitive development.
Implications:
- This case expands the limited literature on 49,XXYYY syndrome, highlighting its phenotypic variability.
- Further research into XYYY syndrome is needed to elucidate genotype-phenotype correlations and inform long-term care strategies.