1/200. prader-willi syndrome and psychotic symptoms: 1. Case descriptions and genetic studies.Six people with prader-willi syndrome (PWS) who developed psychoses are described. Along with other literature reviewed in the present paper, the results imply an association between PWS and psychotic symptoms. Genetic studies were possible in five cases and SNRPN expression was examined in three cases. Maternal uniparental disomy and 15q11q13 deletions were found, demonstrating that psychotic symptoms are not associated with a single type of genetic abnormality.- - - - - - - - - - ranking = 1keywords = x (Clic here for more details about this article) |
2/200. prader-willi syndrome and cycloid psychoses.The psychiatric symptomatology of people with prader-willi syndrome (PWS) has mainly been described in case reports and some large-scale descriptive studies. Unfortunately, there is still no systematic description of all the psychiatric symptoms which accompany this chromosomal error. Symptoms of mood disorder and anxiety dominate the picture of PWS, although some reports also mention psychotic symptoms with variations in prevalence of between 15% and 60%. The present paper presents six case reports of adult male subjects with a diagnosis of PWS and psychiatric symptoms who fulfill the criteria for cycloid psychosis (ICD-10 F.23.0). This psychotic disorder requires a specific psychopharmacological approach with mood stabilizing agents, particularly lithium. It is concluded that subjects with PWS may be especially vulnerable to the development of cycloid psychosis, which suggests the existence of a specific 'psychopathological phenotype'.- - - - - - - - - - ranking = 1keywords = x (Clic here for more details about this article) |
3/200. Syndromal obesity due to paternal duplication 6(q24.3-q27).The likelihood of a paternally expressing imprinted gene in chromosome region 6(q23-24) has been highlighted by cases of transient neonatal diabetes mellitus (TNDM) in which paternal uniparental disomy (UPD) for chromosome 6 or paternal duplication 6(q23-qter) was detected. We present the case of a 38-year-old man with moderate to severe intellectual delay, short stature, small hands and feet, eye abnormality, small mouth, and obesity (without hyperphagia) beginning in mid-childhood. The perinatal and neonatal histories were normal. The patient had a duplication within 6q. fluorescence in situ hybrisation studies were performed with single and dual hybridisations using a chromosome 6 library probe, short and long arm subregional probes, 6q23-24, 6q25.3-6qter locus-specific probes, and a 6q telomere probe. The hybridisation results defined an inverted duplication of 6q24.3 to 6q27. DNA studies with microsatellite markers from 6p and 6q showed regular biparental inheritance of chromosome 6 and confirmed that the duplication was paternal in origin. Our patient appears to be the first one known to have paternal duplication of chromosome area 6(q24-q27) who did not have TNDM as an infant. He has remained nondiabetic, although obesity, without hyperphagia, has been a constant problem since its onset in mid-childhood.- - - - - - - - - - ranking = 0.33333333333333keywords = x (Clic here for more details about this article) |
4/200. Genetic factors in human sleep disorders with special reference to Norrie disease, prader-willi syndrome and Moebius syndrome.Sleep-wake problems are common in specific inborn errors of metabolism and structure of the central nervous system. Psychological factors, behavioural difficulties, metabolic disturbances, and widespread rather than focal damage to the nervous system are present in many of these diseases and all influence the sleep-wake cycle. However, a number of conditions cause relatively focal damage to the neuroanatomical substrate of sleeping and waking. These include fatal familial insomnia, with involvement of the prion protein gene on chromosome 20, Norrie disease, the prader-willi syndrome and the Moebius syndrome. The last three important conditions, although rare, are considered in detail in this review. They result in sensory deprivation, hypothalamic and mid-brain damage, and involve the X-chromosome, chromosome 15, and chromosome 13, respectively. These conditions cause a wide variety of sleep disturbance, including parasomnias, daytime sleepiness, and a condition like cataplexy. The place of the relevant gene products in normal sleep regulation needs further exploration.- - - - - - - - - - ranking = 0.66666666666667keywords = x (Clic here for more details about this article) |
5/200. Duplication within chromosome region 15q11-q13 in a patient with similarities to prader-willi syndrome confirmed by region-specific and band-specific fish.We report on a patient presenting with mental retardation and obesity and a proximal duplication of chromosome 15. The patient shared some clinical signs with prader-willi syndrome. With a region-specific paint, generated by microdissection, a duplication in region 15q11.2-q13 was shown to be present. Subsequently, FISH with probes localized to chromosome region 15q11.2-q12 and microsatellite analysis was used to characterize this chromosome aberration further and an insertion duplication within the region frequently deleted in Prader-Willi and angelman syndrome was demonstrated.- - - - - - - - - - ranking = 0.33333333333333keywords = x (Clic here for more details about this article) |
6/200. Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype.We report on a boy with a maternal uniparental disomy for chromosome 14 (UPD(14)). At 7 years of age he was referred to us by the paediatrician because of symptoms of prader-willi syndrome (PWS). He showed short stature, obesity, mild developmental delay, cryptorchidism, and some mild dysmorphic features. The history further indicated intrauterine growth retardation at the end of the pregnancy. His mother was 44 years of age at the time of his birth. After birth he showed hypotonia with poor sucking, for which gavage feeding was needed. Motor development was delayed. After 1 year he became obese despite a normal appetite. Recurrent middle ear infections, a high pain threshold, and a great skill with jigsaw puzzles were reported. There were no behavioural problems or sleep disturbance. Chromosomal analysis was normal (46,XY). DNA analysis for prader-willi syndrome showed no abnormalities. Two years later he was re-examined because we thought his features fitted the PWS-like phenotype associated with maternal UPD(14). At that time precocious puberty was evident. DNA analysis showed maternal heterodisomy for chromosome 14. In all the previously described 11 cases with maternal UPD(14), a Robertsonian translocation involving chromosome 14 was detected cytogenetically before DNA analysis. This is the first report of diagnosis of maternal UPD(14) based on clinical features. This finding underlines the importance of DNA analysis for maternal UPD(14) in patients with a similar PWS-like phenotype even without previous identification of a Robertsonian translocation involving chromosome 14.- - - - - - - - - - ranking = 0.33333333333333keywords = x (Clic here for more details about this article) |
7/200. Investigation of a cryptic interstitial duplication involving the Prader-Willi/angelman syndrome critical region.A 3-year-old female referred with developmental delay, hypotonia and seizures was found to have a cryptic interstitial duplication of the Prader-Willi/Angelman critical region (PWACR). Her clinical features form part of a common phenotype characteristic of PWACR duplications including developmental delay, behavioural problems and speech difficulties. Microsatellite analysis showed that the duplication had arisen de novo, was maternal in origin and involved the entire 4-Mb PWACR between the common deletion breakpoints. The existence of cryptic rearrangements emphasises the need for molecular tests alongside conventional cytogenetics when investigating abnormalities involving this imprinted region.- - - - - - - - - - ranking = 0.33333333333333keywords = x (Clic here for more details about this article) |
8/200. Interstitial 6q deletion with a Prader-Willi-like phenotype: a new case and review of the literature.We report on an additional fourth case of Prader-Willi (PW)-like phenotype and an interstitial deletion of 6q. Despite sharing clinical characteristics, patients with a PW-like phenotype and a deletion of 6q, have features which distinguish them from prader-willi syndrome (PWS) patients. This case emphasizes the need to examine patients with suspected PWS, but who are negative for recognizable deletions of 15q11-q13 or uniparental maternal disomy of chromosome 15, for a deletion of 6q.- - - - - - - - - - ranking = 0.33333333333333keywords = x (Clic here for more details about this article) |
9/200. Failure of biliopancreatic diversion in prader-willi syndrome.BACKGROUND: prader-willi syndrome (PWS) is the most common genetic obesity. Excessive weight gain follows failure-to-thrive in early infancy; in adolescents and young adults, excess body weight can exceed 100%. The hyperphagia associated with PWS is responsible for the early mortality. Dietary restriction, alone or combined with anorexic drugs, are ineffective to induce a permanent weight loss. Thus, surgical treatment of morbid obesity in PWS has been attempted, but gastric restrictive operations are unable to produce stable weight loss. In a small number of patients, favorable results have been reported with biliopancreatic diversion (BPD). CASE REPORT: A 24-year-old woman with PWS, Pickwickian, at age 21 weighed 80 kg (BMI= 50) and underwent BPD. RESULTS: 3 years after the BPD she regained 21 of the 26 kg lost; somnolence and respiratory difficulties were the same as before surgery. The patient now presents severe reduction of bone mass density, hypochromic anemia, hypoproteinemia, and diarrhea associated with eating. CONCLUSION: The regain of weight following BPD suggests that this procedure alone is not adequate for long-term control of obesity in PWS.- - - - - - - - - - ranking = 1.3333333333333keywords = x (Clic here for more details about this article) |
10/200. Submicroscopic deletion in cousins with prader-willi syndrome causes a grandmatrilineal inheritance pattern: effects of imprinting.The prader-willi syndrome (PWS) critical region on 15q11-q13 is subject to imprinting. PWS becomes apparent when genes on the paternally inherited chromosome are not expressed. Familial PWS is rare. We report on a family in which a male and a female paternal first cousin both have PWS with cytogenetically normal karyotypes. fluorescence in situ hybridization (FISH) analysis shows a submicroscopic deletion of SNRPN, but not the closely associated loci D15S10, D15S11, D15S63, and GABRB3. The cousins' fathers and two paternal aunts have the same deletion and are clinically normal. The grandmother of the cousins is deceased and not available for study, and their grandfather is not deleted for SNRPN. dna methylation analysis of D15S63 is consistent with an abnormality of the imprinting center associated with PWS. "Grandmatrilineal" inheritance occurs when a woman with deletion of an imprinted, paternally expressed gene is at risk of having affected grandchildren through her sons. In this case, PWS does not become evident as long as the deletion is passed through the matrilineal line. This represents a unique inheritance pattern due to imprinting.- - - - - - - - - - ranking = 0.66666666666667keywords = x (Clic here for more details about this article) |
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