scholarly journals Segmental maternal heterodisomy of the proximal part of chromosome 15 in an infant with Prader–Willi syndrome

2004 ◽  
Vol 12 (5) ◽  
pp. 411-414 ◽  
Author(s):  
Sergey Nazarenko ◽  
Elena Sazhenova ◽  
Alessandra Baumer ◽  
Albert Schinzel
Keyword(s):  
Proximal Part ◽  
Chromosome 15 ◽  
Prader Willi Syndrome

Prader–Willi syndrome: cycloid psychosis in a genetic subtype?

2003 ◽  
Vol 15 (1) ◽  
pp. 32-37 ◽  
Author(s):  
W. M. A. Verhoeven ◽  
S. Tuinier ◽  
L. M. G. Curfs
Keyword(s):  
Bipolar Affective Disorder ◽  
Proximal Part ◽  
Psychotic Symptoms ◽  
Chromosome 15 ◽  
Prader Willi Syndrome ◽  
Obsessive Compulsive ◽  
Cycloid Psychosis ◽  
Genetic Subtype ◽  
Compulsive Behaviors ◽  
Genetically Determined

Prader–Willi syndrome (PWS) is a genetically determined disorder associated with the loss of the paternal contribution to the proximal part of the long arm of chromosome 15. Its pathophysiology is dominated by hypothalamic dysfunctions. The psychopathological phenotype comprises affective and psychotic symptoms as well as an increase of pre-existent obsessive-compulsive behaviors. The present study comprises 19 PWS patients who were referred for neuropsychiatric evaluation because of psychotic deterioration. Patients were assessed by using the elements of semistructured symptom checklists. In the majority a genetic analysis was performed to detect the underlying chromosomal defect. In 16 of the 19 patients a diagnosis of cycloid psychosis could be established. The other three showed a bipolar affective disorder. Of the psychotic patients, 11 were diagnosed as UPD and one as del 15q11–13. The remaining four patients were diagnosed clinically. For various reasons the genetic etiology could not be established. In PWS patients with a psychotic disorder (cycloid psychosis) a disproportional number of UPD is found.

‘Severe’ Prader-Willi syndrome with a large deletion of chromosome 15 due to an unbalanced t(15,22)(q14;q11.2) translocation

2002 ◽  
Vol 63 (1) ◽  
pp. 79-81 ◽  
Author(s):  
M Matsumura ◽  
T Kubota ◽  
E Hidaka ◽  
K Wakui ◽  
S Kadowaki ◽  
...  
Keyword(s):  
Large Deletion ◽  
Chromosome 15 ◽  
Prader Willi Syndrome

Birth seasonality in Prader-Willi syndrome resulting from chromosome 15 microdeletion

2013 ◽  
Vol 161 (6) ◽  
pp. 1495-1497 ◽  
Author(s):  
Tadayuki Ayabe ◽  
Keiko Matsubara ◽  
Tsutomu Ogata ◽  
Atsuko Ayabe ◽  
Nobuyuki Murakami ◽  
...  
Keyword(s):  
Chromosome 15 ◽  
Prader Willi Syndrome ◽  
Birth Seasonality

Safety and effectiveness of growth hormone therapy in infants with Prader-Willi syndrome younger than 2 years: a prospective study

2019 ◽  
Vol 32 (8) ◽  
pp. 879-884 ◽  
Author(s):  
Raquel Corripio ◽  
Carla Tubau ◽  
Laura Calvo ◽  
Carme Brun ◽  
Núria Capdevila ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Prospective Study ◽  
Mixed Model ◽  
Standard Deviation Score ◽  
Uniparental Disomy ◽  
Chromosome 15 ◽  
Prader Willi Syndrome ◽  
Gh Treatment ◽  
Maternal Uniparental Disomy ◽  
A Prospective Study

Abstract Background There is little evidence of the effects of early treatment with growth hormone (GH) in infants with Prader-Willi syndrome (PWS). A prospective study was conducted to assess the safety of GH therapy in infants younger than 2 years of age with PWS. Methods A total of 14 patients with PWS started treatment with GH under the age of 2 years and were followed over a 2-year period. A deletion of chromosome 15 was present in nine infants (64.3%) and maternal uniparental disomy 15 in five infants (35.7%). The median age at start of GH treatment was 9.6 months (interquartile range [IQR] 9.0–18.3 months). Changes in height standard deviation score (SDS), body mass index (BMI) SDS and subcapsular and tricipital skinfolds in the follow-up period were evaluated with a mixed-model regression analysis using the Package R. Results There were no fatal adverse events. A significant decrease (p < 0.001) in tricipital and subcapsular skinfold thickness, with an upward trend of height SDS and a downward trend of BMI SDS, was observed. Infants who started GH before 15 months of age started walking at a median of 18.0 [17.0–19.5] months vs. 36.6 [36.3–37.8] months for those who began treatment with GH after 15 months of age (p = 0.024). Conclusions GH treatment in infants with PWS less than 2 years of age is safe and improved body composition. Infants who received GH before the age of 15 months started to walk earlier.

Chromosome 15 and Prader-Willi Syndrome

2008 ◽  
Vol 14 (5) ◽  
pp. 315-316 ◽  
Author(s):  
O. Zuffardi ◽  
E. M. Bühler ◽  
M. Fraccaro
Keyword(s):  
Chromosome 15 ◽  
Prader Willi Syndrome

Prader-Willi syndrome and Robertsonian translocations involving chromosome 15

2008 ◽  
Vol 39 (4) ◽  
pp. 294-297 ◽  
Author(s):  
Anthony C. Casamassima ◽  
Lawrence R. Shapiro ◽  
Patrick L. Wilmot ◽  
Karen Berk Smith
Keyword(s):  
Chromosome 15 ◽  
Prader Willi Syndrome ◽  
Robertsonian Translocations

scholarly journals Analysis of imprinted genes in subjects with Prader-Willi syndrome and chromosome 15 abnormalities

1999 ◽  
Vol 1 (4) ◽  
pp. 141-145 ◽  
Author(s):  
Bethi Muralidhar ◽  
Annis Marney ◽  
Merlin G Butler
Keyword(s):  
Imprinted Genes ◽  
Chromosome 15 ◽  
Prader Willi Syndrome

scholarly journals Quantitative Analysis of SRNPN Gene Methylation by Pyrosequencing as a Diagnostic Test for Prader–Willi Syndrome and Angelman Syndrome

2006 ◽  
Vol 52 (6) ◽  
pp. 1005-1013 ◽  
Author(s):  
Helen E White ◽  
Victoria J Durston ◽  
John F Harvey ◽  
Nicholas CP Cross
Keyword(s):  
Diagnostic Test ◽  
Angelman Syndrome ◽  
Uniparental Disomy ◽  
Chromosome 15 ◽  
Prader Willi Syndrome ◽  
Maternal Uniparental Disomy ◽  
Cpg Sites ◽  
Specific Pcr ◽  
Small Nuclear Ribonucleoprotein ◽  
Maternal Contribution

Abstract Background: Angelman syndrome (AS) and Prader–Willi syndrome (PWS) are 2 distinct neurodevelopmental disorders caused primarily by deficiency of specific parental contributions at an imprinted domain within the chromosomal region 15q11.2-13. In most cases, lack of paternal contribution leads to PWS either by paternal deletion (∼70%) or maternal uniparental disomy (UPD; ∼30%). Most cases of AS result from the lack of a maternal contribution from this same region by maternal deletion (∼70%) or by paternal UPD (∼5%). Analysis of allelic methylation differences at the small nuclear ribonucleoprotein polypeptide N (SNRPN) locus can differentiate the maternally and paternally inherited chromosome 15 and can be used as a diagnostic test for AS and PWS. Methods: Sodium bisulfite–treated genomic DNA was PCR-amplified for the SNRPN gene. We used pyrosequencing to individually quantify the resulting artificial C/T sequence variation at CpG sites. Anonymized DNA samples from PWS patients (n = 40), AS patients (n = 31), and controls (n = 81) were analyzed in a blinded fashion with 2 PCR and 3 pyrosequencing reactions. We compared results from the pyrosequencing assays with those obtained with a commonly used methylation-specific PCR (MS-PCR) diagnostic protocol. Results: The pyrosequencing assays had a sensitivity and specificity of 100% and provided quantification of methylation at 12 CpG sites within the SNRPN locus. The resulting diagnoses were 100% concordant with those obtained from the MS-PCR protocol. Conclusions: Pyrosequencing is a rapid and robust method for quantitative methylation analysis of the SNRPN locus and can be used as a diagnostic test for PWS and AS.

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