A new case of interstitial 6q16. 2 deletion in a patient with Prader–Willi-like phenotype and investigation of SIM1 gene deletion in 87 patients with syndromic obesity

MC Varela, AY Simões-Sato, CA Kim… - European journal of …, 2006 - Elsevier
The association of obesity, phenotypic abnormalities and mental retardation characterizes
syndromic obesity. Its most common form is the Prader–Willi syndrome (PWS—neonatal
hypotonia, poor sucking, delayed psychomotor development, hyperphagia, severe obesity,
short stature, small hands and feet, hypogonadism, mild to moderate mental retardation and
behavioral disorders). A PWS-like phenotype has been described in patients with
chromosome abnormalities involving the chromosome region 6q16. 2 that includes the SIM1 …