2002
DOI: 10.1590/s0004-282x2002000600024
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Abstract: -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 presen… Show more

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Cited by 10 publications
(10 citation statements)
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“…Our literature review also showed up other chromosomal abnormalities that were less commonly cited as associated with the PW-like phenotype, such as the 10q26 deletion (Lukusa and Fryns, 2000), 12q subtelomere deletions (Niyazov et al, 2007), chromosomal abnormality associated with Angelman's syndrome (De Molfetta et al, 2002), 2pter deletion (Doco-Fenzy et al, 2013), and other X chromosome abnormalities (Florez et al, 2003;BenAbdallah-Bouhjar et al, 2012). The resultant phenotype of the duplications of the long arm of the X chromosome is more severe in males because of modulation by skewed X-inactivation in females.…”
Section: Discussionmentioning
confidence: 60%
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“…Our literature review also showed up other chromosomal abnormalities that were less commonly cited as associated with the PW-like phenotype, such as the 10q26 deletion (Lukusa and Fryns, 2000), 12q subtelomere deletions (Niyazov et al, 2007), chromosomal abnormality associated with Angelman's syndrome (De Molfetta et al, 2002), 2pter deletion (Doco-Fenzy et al, 2013), and other X chromosome abnormalities (Florez et al, 2003;BenAbdallah-Bouhjar et al, 2012). The resultant phenotype of the duplications of the long arm of the X chromosome is more severe in males because of modulation by skewed X-inactivation in females.…”
Section: Discussionmentioning
confidence: 60%
“…If two or more articles reported the same chromosomal alterations for PW-like phenotype, the most recent was chosen. Twelve articles of 14 were case reports (Lukusa and Fryns, 2000;De Molfetta et al, 2002;Florez et al, 2003;Stalker et al, 2003;Niyazov et al, 2007;Nowicki et al, 2007;Gabbett et al, 2008;Pramyothin et al, 2010;Tsuyusaki et al, 2010;Ben-AbdallahBouhjar et al, 2012;Doco-Fenzy et al, 2013;Izumi et al, 2013) and two reported series of cases: one of 78 cases (Hosoki et al, 2009) and another of 9 cases (D'Angelo et al, 2013) ( Table 1). The patients included in this review were clinically diagnosed as bearing the PWlike phenotype because they were negative for alterations on 15q11-q13.…”
Section: Resultsmentioning
confidence: 99%
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“…4 There are a small number of reported cases of patients with clinical features of PWS but a molecular diagnosis of AS. [5][6][7] In the majority of these cases partial loss of maternal methylation is observed.…”
Section: Introductionmentioning
confidence: 99%
“…Situação muito especial ocorre nas síndro m e s de Prader-Willi e de Angelman. Na síndrome de Prader-Willi o fenótipo se deve à falta de expressão do alelo 15 paterno e, na de Angelman, do alelo 15 ma- terno [13][14][15] . Nestas, o risco de recorrência varia de 1 a 50%, dependendo do tipo de alteração detectada nos exames moleculare s 1 5 -1 7 .…”
Section: Discussionunclassified