The advent of sensitive genetic testing modalities for the diagnosis of Prader-Willi syndrome has helped to define not only the phenotypic features of the syndrome associated with the various genotypes but also to anticipate clinical and psychological problems that occur at each stage during the life span. With advances in hormone replacement therapy, particularly growth hormone children born i...

Most cases of Prader-Willi syndrome are caused by partial deletion of the paternally derived chromosome 15, while maternally derived chromosome 15 is responsible for Angelman syndrome. We report the results of molecular and cytogenetic analyses of a patient who was given a final diagnosis of Prader-Willi syndrome, but also had manifestations consistent with Angelman syndrome. The patient was a ...

Microdeletion syndromes are caused by chromosomal deletions of less than 5 megabases which can be detected by fluorescence in situ hybridization (FISH). We evaluated the most commonly detected microdeletions for the period from June 01, 2008 to June 01, 2015 in the Federation of Bosnia and Herzegovina, including DiGeorge, Prader-Willi/Angelman, Wolf-Hirschhorn, and Williams syndromes. We report...

Wigren, M. & Heimann, M. Skin Picking in Prader-Willi Syndrome: A Pilot Study of Clinical Differences and Comorbid Symptoms. Göteborg Psychological Reports, 1999, 29, No. 6. Skin picking constitutes a minor diagnostic criterion for Prader-Willi syndrome and is considered to be a syndrome specific behavior and part of a behavioral phenotype. This study surveyed different aspects and patterns of ...

Microdeletions are often characterised by a complex clinical and behavioural phenotype resulting from the imbalance of normal dosage of genes located in that particular chromosomal segment. In this review we include the present state of art and a delineation of the future approach to study the candidate genes in the microdeletion syndromes resulting from unequal homologous recombination at meio...

OBJECTIVES The objective of this study was to develop an informant-based questionnaire to assess food-related problems in people with Prader-Willi syndrome and to conduct an examination of psychometric properties. DESIGN Following a content analysis of informant interview responses a 16-item questionnaire, the Food Related Problem Questionnaire (FRPQ), with three subscales (preoccupation with...

BACKGROUND Microdeletion syndromes not detectable by conventional cytogenetic analysis have been reported to occur in approximately 5% of patients with unexplained mental retardation (MR). Therefore, it is essential to ensure that patients with MR are screened for these microdeletion syndromes. Mental retardation syndrome multiplex ligation-dependent probe amplification (MRS-MLPA) is a new tech...

The majority of patients with Angelman syndrome and Prader-Willi syndrome have a cytogenetic and molecular deletion of chromosome 15q11q13 with the primary difference being in the parental origin of deletion. Our current understanding of the cytogenetics and molecular genetics of these 2 clinically distinct syndromes will be discussed in this review.

Constipation is a common feature of Prader-Willi syndrome. Research exploring the prevalence, cause and treatment options for constipation is limited and lacks objective measurements such as anorectal manometry. We report a case of a 16-year-old lady with Prader-Willi syndrome presenting with rectal pain and constipation for 2 years despite multiple medications and weekly enemas. She also noted...

INTRODUCTION Sleep abnormalities, including narcolepsy and cataplexy, are a common feature of Prader-Willi syndrome. Long-term treatment with the central nervous system stimulant modafinil has not been reported. In this case report we present a longitudinal perspective of sleep abnormalities in a nine-year-old Caucasian girl with Prader-Willi syndrome from age two to age nine, and detail the re...