Add to ORKGBalanced translocations affecting the paternal copy of 15q11-q13 are a rare cause of Prader-Willi syndrome(PWS) or PWS-like features. Here we report on the cytogenetic and molecular characterization of a denovo balanced reciprocal translocation t(X;15)(q28;q12) in a female patient with atypical PWS. The translocation breakpoints in this patient and two previously reported patients map 70-80 kb distal to the SNURF-SNRPN gene and define a breakpoint cluster region. The breakpoints disrupt one of several hitherto unknown 3′ exons of this gene. Using RT-PCR we demonstrate that sequences distal to the breakpoint, including the recently identified C/D box small nucleolar RNA (snoRNA) gene cluster HBII-85 as well as IPW and PAR1, are not expressed...
Prader–Willi syndrome (PWS) is a contiguous gene syndrome caused by the loss of function of genes si...
A deletion in 15q11.2 involving the SNURF/SNRPN gene is the typical finding in patients with Prader-...
Thirty-seven patients presenting features of the Prader-Willi syndrome (PWS) have been examined usin...
Balanced translocations affecting the paternal copy of 15q11–q13 are a rare cause of Prader–Willi sy...
Abstract Background Prader-Willi syndrome (MIM #176270; PWS) is caused by lack of the paternally-der...
SummaryThe lack of normally active paternal genes in 15q11-q13, as an outcome of either a paternal d...
A patient with Prader-Willi syndrome (PWS) was found to carry a de novo balanced reciprocal transloc...
SummaryA Prader-Willi syndrome patient is described who has a de novo balanced translocation, (4;15)...
The Prader- Will) syndrome and the Angelman syndrome are caused by the loss of function of distinct ...
Prior work has suggested that loss of expression of one or more of the many C/D box small nucleolar ...
Prader-Willi syndrome (PWS) is a complex, multisystem genetic disorder characterized by endocrine, n...
Background: Prader-Willi syndrome (PWS) is a rare genetic disorder resulting from the lack of expres...
The Prader—Willi syndrome and the Angelman syndrome are caused by the loss of function of distinct b...
BackgroundPrader-Willi syndrome (PWS) is an imprinting disorder caused by the absence of paternal ex...
Prader-Willi syndrome (PWS) is caused by the loss of RNA expression from an imprinted region on chro...
Prader–Willi syndrome (PWS) is a contiguous gene syndrome caused by the loss of function of genes si...
A deletion in 15q11.2 involving the SNURF/SNRPN gene is the typical finding in patients with Prader-...
Thirty-seven patients presenting features of the Prader-Willi syndrome (PWS) have been examined usin...
Balanced translocations affecting the paternal copy of 15q11–q13 are a rare cause of Prader–Willi sy...
Abstract Background Prader-Willi syndrome (MIM #176270; PWS) is caused by lack of the paternally-der...
SummaryThe lack of normally active paternal genes in 15q11-q13, as an outcome of either a paternal d...
A patient with Prader-Willi syndrome (PWS) was found to carry a de novo balanced reciprocal transloc...
SummaryA Prader-Willi syndrome patient is described who has a de novo balanced translocation, (4;15)...
The Prader- Will) syndrome and the Angelman syndrome are caused by the loss of function of distinct ...
Prior work has suggested that loss of expression of one or more of the many C/D box small nucleolar ...
Prader-Willi syndrome (PWS) is a complex, multisystem genetic disorder characterized by endocrine, n...
Background: Prader-Willi syndrome (PWS) is a rare genetic disorder resulting from the lack of expres...
The Prader—Willi syndrome and the Angelman syndrome are caused by the loss of function of distinct b...
BackgroundPrader-Willi syndrome (PWS) is an imprinting disorder caused by the absence of paternal ex...
Prader-Willi syndrome (PWS) is caused by the loss of RNA expression from an imprinted region on chro...
Prader–Willi syndrome (PWS) is a contiguous gene syndrome caused by the loss of function of genes si...
A deletion in 15q11.2 involving the SNURF/SNRPN gene is the typical finding in patients with Prader-...
Thirty-seven patients presenting features of the Prader-Willi syndrome (PWS) have been examined usin...