A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defect
Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are distinct human neurogenetic disorders; however, a clinical overlap between AS and PWS has been identified. We report on a further case of a patient showing the PWS phenotype with the AS molecular defect. Despite the PWS phenotype, the DNA me...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Academia Brasileira de Neurologia (ABNEURO)
2002-01-01
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| Series: | Arquivos de Neuro-Psiquiatria |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2002000600024 |
| _version_ | 1818403123378520064 |
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| author | De Molfetta Greice Andreotti Felix Temis Maria Riegel Mariluce Ferraz Victor Evangelista de Faria Pina Neto João Monteiro de |
| author_facet | De Molfetta Greice Andreotti Felix Temis Maria Riegel Mariluce Ferraz Victor Evangelista de Faria Pina Neto João Monteiro de |
| author_sort | De Molfetta Greice Andreotti |
| collection | DOAJ |
| description | Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are distinct human neurogenetic disorders; however, a clinical overlap between AS and PWS has been identified. We report on a further case of a patient showing the PWS phenotype with the AS molecular defect. Despite the PWS phenotype, the DNA methylation analysis of SNRPN revealed an AS pattern. Cytogenetic and FISH analysis showed normal chromosomes 15 and microsatellite analysis showed heterozygous loci inside and outside the 15q11-13 region. The presence of these atypical cases could be more frequent than previously expected and we reinforce that the DNA methylation analysis is important for the correct diagnosis of severe mental deficiency, congenital hypotonia and obesity. |
| first_indexed | 2024-12-14T08:19:15Z |
| format | Article |
| id | doaj.art-2d515097dd854cef8b60d18c6bd79d74 |
| institution | Directory Open Access Journal |
| issn | 0004-282X 1678-4227 |
| language | English |
| last_indexed | 2024-12-14T08:19:15Z |
| publishDate | 2002-01-01 |
| publisher | Academia Brasileira de Neurologia (ABNEURO) |
| record_format | Article |
| series | Arquivos de Neuro-Psiquiatria |
| spelling | doaj.art-2d515097dd854cef8b60d18c6bd79d742022-12-21T23:09:51ZengAcademia Brasileira de Neurologia (ABNEURO)Arquivos de Neuro-Psiquiatria0004-282X1678-42272002-01-0160410111014A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defectDe Molfetta Greice AndreottiFelix Temis MariaRiegel MariluceFerraz Victor Evangelista de FariaPina Neto João Monteiro deAngelman syndrome (AS) and Prader-Willi syndrome (PWS) are distinct human neurogenetic disorders; however, a clinical overlap between AS and PWS has been identified. We report on a further case of a patient showing the PWS phenotype with the AS molecular defect. Despite the PWS phenotype, the DNA methylation analysis of SNRPN revealed an AS pattern. Cytogenetic and FISH analysis showed normal chromosomes 15 and microsatellite analysis showed heterozygous loci inside and outside the 15q11-13 region. The presence of these atypical cases could be more frequent than previously expected and we reinforce that the DNA methylation analysis is important for the correct diagnosis of severe mental deficiency, congenital hypotonia and obesity.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2002000600024Angelman syndromePrader-Willi syndromeimprinting defect |
| spellingShingle | De Molfetta Greice Andreotti Felix Temis Maria Riegel Mariluce Ferraz Victor Evangelista de Faria Pina Neto João Monteiro de A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defect Arquivos de Neuro-Psiquiatria Angelman syndrome Prader-Willi syndrome imprinting defect |
| title | A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defect |
| title_full | A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defect |
| title_fullStr | A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defect |
| title_full_unstemmed | A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defect |
| title_short | A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defect |
| title_sort | further case of a prader willi syndrome phenotype in a patient with angelman syndrome molecular defect |
| topic | Angelman syndrome Prader-Willi syndrome imprinting defect |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2002000600024 |
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