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A case with 47,XXY,del(15)(q11;q13) karyotype associated with Prader-Willi phenotype
1Servicio de Endocrinología, Hospital Xeral-Cies de Vigo, Barcelona, España.
Insights
This case study details a 12-year-old boy with Prader-Willi syndrome, presenting with obesity, developmental delays, and unique genetic findings. The study highlights a rare genotype linked to the Prader-Willi phenotype in childhood.
Area of Science:
- Genetics
- Pediatrics
- Endocrinology
Background:
- Prader-Willi syndrome (PWS) is a complex genetic disorder affecting multiple body systems.
- Typical PWS is characterized by specific genetic deletions orUPD on chromosome 15.
- Early diagnosis and intervention are crucial for managing PWS symptoms.
Observation:
- A 12-year-old boy presented with obesity, hyperphagia, hypotonia, and developmental issues.
- He exhibited personality disorders, respiratory insufficiency, central obesity, small extremities, and genital hypoplasia.
- Biochemical findings included hyperglycemia and low serum testosterone levels.
Findings:
- The patient met clinical criteria for Prader-Willi syndrome.
- Cytogenetic analysis revealed a karyotype of 47,XXY, del(15)(q11;q13).
- This represents a novel genetic finding in a child diagnosed with PWS phenotype.
Implications:
- This case expands the understanding of genetic variations associated with Prader-Willi syndrome.
- It underscores the importance of comprehensive genetic analysis in atypical PWS presentations.
- Further research into genotype-phenotype correlations in PWS is warranted.
Abstract:
Herein we present the case of a 12-year-old boy who attended our clinic for obesity and hyperphagia. As a newborn he was noted to have diffuse muscular hypotonia and poor sucking response. At the age of 11 years, he was admitted to hospital for respiratory insufficiency. He had personality disorders characterized by temper tantrums and violent outbursts including self-mutilation. Physical evaluation revealed marked central obesity, he had small hands and feet, and also genital hypoplasia. Of the biochemical parameters, hyperglycemia and a low serum testosterone level must be emphasized. The patient fulfills the clinical criteria of typical Prader-Willi syndrome. Cytogenetic and fluorescence in situ hybridization analysis showed a karyotype 47,XXY, del(15)(q11;q13). To our knowledge this is the first report of the aforementioned genotype expressed as Prader-Willi phenotype in childhood.