Article
A case with 47,XXY,del(15)(q11;q13) karyotype associated with Prader-Willi phenotype.
Hormone research - 1 Jan 1997
Rego A, Coll M D, Regal M, Guitart M, Escudero T, García-Mayor R V
Abstract excerpt
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 disord...
Topics
- Child
- Chromosomes, Human, Pair 15
- Gene Deletion
- Genitalia, Male
- Humans
- Hyperglycemia
- In Situ Hybridization, Fluorescence
- Karyotyping
- Klinefelter Syndrome
- Male
- Obesity
- Personality Disorders
- Phenotype
- Polymorphism, Restriction Fragment Length
- Prader-Willi Syndrome
- Testosterone