Abstract
Prader-Willi syndrome (PWS), initially described in 1956, is now known to be caused by a deletion of the paternal allele in position 15q11–13 (~70% of patients) or a uniparental (maternal) disomy, affecting the same region or the whole of chromosome 15 (1). Thus, PWS is a manifestation of genomic imprinting; the critical region of chromosome 15 is active only in the paternally inherited chromosome. Affected children are characterized by distinct facies, obesity, hypotonia, short stature, hypogonadism, and behavioral abnormalities (2). With an incidence of 1 in every 12,000 births, PWS is the most common syndromal cause of marked obesity.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
