{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T12:33:10Z","timestamp":1791289990618,"version":"4.3.0"},"reference-count":39,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1996,2]]},"abstract":"<jats:p>We report the clinical features in 27 Australasian patients with Angelman syndrome (AS), all with a DNA deletion involving chromosome 15(q11-13), spanning markers from D15S9 to D15S12, about 3 center dot 5 Mb of DNA. There were nine males and 18 females. All cases were sporadic. The mean age at last review (end of 1994) was 11 center dot 2 years (range 3 to 34 years). All patients were ataxic, severely retarded, and lacking recognisable speech. In all patients, head circumference (HC) at birth was normal but skewed in distribution, with 62 center dot 5% at the 10th centile. At last review HC was around the 50th centile in three patients (12 center dot 5%) while 15 had poor postnatal head growth. Short stature was not invariable, 5\/26 (19%) were on or above the 50th centile. Hypotonia at birth was recorded in 15\/24 (63%) and neonatal feeding difficulties were recorded in 20\/26 (77%). Epilepsy was present in 26\/27 (96%) with onset by the third year of life in 20 patients (83%). Improvement in epilepsy was reported in 11\/16 patients (69%) with age. An abnormal EEG was reported in 25\/25 patients. Hypopigmentation was present in 19\/26 (73%). One patient had oculocutaneous albinism. Five patients could not walk independently. Of the remaining 22 who could walk, age of onset of walking ranged from 2 to 8 years. Disrupted sleep patterns were present in 18\/21 patients (86%), with improvement in 9\/12 patients (75%) over 10 years of age. The clinical features in this group of deletional AS patients were similar to previous reports, but these have not separated patients into subgroups based on DNA studies. In our group of deletional cases, 100% showed severe mental retardation, ataxic movements, absent language, abnormal EEG, happy disposition (noted in infancy in 95%), normal birth weight and head circumference at birth, and a large, wide mouth. These features occurred with a higher frequency than in AS patients as a whole. Our study also provided information on the evolution of the phenotype. The data can act as a benchmark for comparisons of AS resulting from other genetic mechanisms.<\/jats:p>","DOI":"10.1136\/jmg.33.2.107","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"107-112","source":"Crossref","is-referenced-by-count":81,"title":["Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion."],"prefix":"10.1136","volume":"33","author":[{"given":"A","family":"Smith","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Wiles","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Haan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"McGill","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G","family":"Wallace","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Dixon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R","family":"Selby","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Colley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R","family":"Marks","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R J","family":"Trent","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1996,2,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1111\/j.1469-8749.1965.tb07844.x","article-title":"\"Puppet\" children: a report on three cases","volume":"7","author":"Angelman, H.","year":"1965","unstructured":"Angelman H. \"Puppet\" children: a report on three cases. Dev Med Child Neurol 1965;7:681-8.","journal-title":"Dev Med Child Neurol"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1136\/adc.42.223.298","article-title":"The \"happy puppet\"","volume":"42","author":"Bower, B.D.; Jeavons, P.M.","year":"1967","unstructured":"Bower BD, Jeavons PM. The \"happy puppet\" syndrome. Arch Dis Child 1967;42:298-302.","journal-title":"syndrome. Arch Dis Child"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1136\/jmg.24.5.294","article-title":"Angelman (happy puppet syndrome) in a girl and her brother","volume":"24","author":"Fisher, J.A.; Burn, J.; Alexander, F.W.; Gardner-Medwin, D.","year":"1987","unstructured":"Fisher JA, Burn J, Alexander FW, Gardner-Medwin D. Angelman (happy puppet syndrome) in a girl and her brother. J Med Genet 1987;24:294-8.","journal-title":"J Med Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"1005","DOI":"10.1111\/j.1469-8749.1990.tb08124.x","article-title":"Angelman syndrome in infancy","volume":"32","author":"Yamada, K.A.; Volpe, J.J.","year":"1990","unstructured":"Yamada KA, Volpe JJ. Angelman syndrome in infancy. Dev Med Child Neurol 1990;32:1005-10.","journal-title":"Dev Med Child Neurol"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1002\/ajmg.1320380114","article-title":"Diagnosis of Angelman syndrome in infants","volume":"38","author":"Fryburg, J.S.; Breg, W.R.; Lindgren, V.","year":"1991","unstructured":"Fryburg JS, Breg WR, Lindgren V. Diagnosis of Angelman syndrome in infants. Am _7 Med Genet 1991;38:58-64.","journal-title":"Am _7 Med Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1011","DOI":"10.1111\/j.1469-8749.1990.tb08125.x","article-title":"Angelman syndrome in the first year of life","volume":"32","author":"A, Van Lierde; MG, Atza; D, Giardino; F, Viani","year":"1990","unstructured":"Van Lierde A, Atza MG, Giardino D, Viani F. Angelman syndrome in the first year of life. Dev Med Child Neurol 1990;32: 1011-15.","journal-title":"Dev Med Child Neurol"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1002\/ajmg.1320320313","article-title":"Incidence of 15q deletions in the Angelman syndrome: a survey of twelve affected persons","volume":"32","author":"Williams, C.A.; Gray, B.A.; Hendrickson, J.E.; Stone, J.W.; Cantu, E.S.","year":"1989","unstructured":"Williams CA, Gray BA, Hendrickson JE, Stone JW, Cantu ES. Incidence of 15q deletions in the Angelman syndrome: a survey of twelve affected persons. Am 7Med Genet 1989; 32:339-45.","journal-title":"Am 7Med Genet"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1136\/adc.64.1.83","article-title":"The \"happy puppet\" syndrome of Angelman: review of the clinical features","volume":"64","author":"Robb, S.A.; Pohl, K.R.; Baraitser, M.; Wilson, J.; Brett, E.M.","year":"1989","unstructured":"Robb SA, Pohl KR, Baraitser M, Wilson J, Brett EM. The \"happy puppet\" syndrome of Angelman: review of the clinical features. Arch Dis Child 1989;64:83-6.","journal-title":"Arch Dis Child"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1083","DOI":"10.1111\/j.1528-1157.1992.tb01763.x","article-title":"Epilepsy in Angelman syndrome associated with chromosome 15q deletion","volume":"33","author":"Matsumoto, A.; Kumagai, T.; Miura, K.; Hawakawa, Miyazaki S.; C, Yamanaka; T.","year":"1992","unstructured":"Matsumoto A, Kumagai T, Miura K, Miyazaki S. Hawakawa C, Yamanaka T. Epilepsy in Angelman syndrome associated with chromosome 15q deletion. Epilepsia 1992; 33:1083-90.","journal-title":"Epilepsia"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1002\/ajmg.1320460105","article-title":"Clinical research on Angelman syndrome in the United Kingdom: observations on 82 affected individuals","volume":"46","author":"Clayton-Smith, J.","year":"1993","unstructured":"Clayton-Smith J. Clinical research on Angelman syndrome in the United Kingdom: observations on 82 affected individuals. Am J Med Genet 1993;46:12-15.","journal-title":"Am J Med Genet"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1136\/jmg.30.6.529","article-title":"Duplication of chromosome 15 in the region 15ql 1-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome","volume":"30","author":"Clayton-Smith, J.; Webb, T.; Cheng, X.J.; Pembrey, M.E.; Malcolm, S.","year":"1993","unstructured":"Clayton-Smith J, Webb T, Cheng XJ, Pembrey ME, Malcolm S. Duplication of chromosome 15 in the region 15ql 1-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome. Jf Med Genet 1993;30:529-31.","journal-title":"Jf Med Genet"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1136\/jmg.29.6.412","article-title":"Angelman syndrome","volume":"29","author":"Clayton-Smith, J.; Pembrey, M.E.","year":"1992","unstructured":"Clayton-Smith J, Pembrey ME. Angelman syndrome. JMed Genet 1992;29:412-15.","journal-title":"JMed Genet"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1177\/088307389200700307","article-title":"Angelman syndrome: clinical profile","volume":"7","author":"Zori, R.T.; Hendrickson, J.; Woolven, S.; Whidden, E.M.; Gray, B.; Williams, C.A.","year":"1992","unstructured":"Zori RT, Hendrickson J, Woolven S, Whidden EM, Gray B, Williams CA. Angelman syndrome: clinical profile. _7 Child Neurol 1992;7:270-80.","journal-title":"_7 Child Neurol"},{"key":"ref_14","first-page":"153","article-title":"Mental retardation, ataxia, seizures, dysmorphia, and hydrocephaly in two sibs. Angelman syndrome or new syndrome","volume":"4","author":"Stoll, C.; Alembik, Y.; Dott, B.; Fischbach, M.; Chognot, D.","year":"1993","unstructured":"Stoll C, Alembik Y, Dott B, Fischbach M, Chognot D. Mental retardation, ataxia, seizures, dysmorphia, and hydrocephaly in two sibs. Angelman syndrome or new syndrome. Genet Couns 1993;4: 153-6.","journal-title":"Genet Couns"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1002\/ajmg.1320460106","article-title":"Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndromes: a review","volume":"46","author":"Nicholls, R.D.","year":"1993","unstructured":"Nicholls RD. Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndromes: a review. Am JMed Genet 1993;46:16-25.","journal-title":"Am JMed Genet"},{"key":"ref_16","first-page":"313","article-title":"Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15qll-13","volume":"90","author":"Dittrich, B.; Robinson, W.P.; Knoblauch, H.","year":"1992","unstructured":"Dittrich B, Robinson WP, Knoblauch H, et al. Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15qll-13. Hum Genet 1992;90:313-15.","journal-title":"Hum Genet"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1007\/BF00215668","article-title":"Maternal origin of deletion 15qll-13 in 25\/25 cases of Angelman syndrome","volume":"88","author":"Clayton-Smith, J.; Webb, T.; Pembrey, M.E.; Nichols, M.; Malcolm, S.","year":"1992","unstructured":"Clayton-Smith J, Webb T, Pembrey ME, Nichols M, Malcolm S. Maternal origin of deletion 15qll-13 in 25\/25 cases of Angelman syndrome. Hum Genet 1992;88:376-8.","journal-title":"Hum Genet"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"694","DOI":"10.1016\/0140-6736(91)90278-W","article-title":"Uniparental disomy in Angelman syndrome","volume":"337","author":"Malcolm, S.; Clayton-Smith, J.; Nichols, M.","year":"1991","unstructured":"Malcolm S, Clayton-Smith J, Nichols M, et al. Uniparental disomy in Angelman syndrome. Lancet 1991;337:694-7.","journal-title":"Lancet"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1136\/jmg.30.11.895","article-title":"Molecular mechanisms in Angelman syndrome: a survey of 93 patients","volume":"30","author":"Chan, C.T.J.; Clayton-Smith, J.; Cheng, X.J.; Buxton, J.; Pembrey, M.E.; Malcolm, S.","year":"1993","unstructured":"Chan CTJ, Clayton-Smith J, Cheng XJ, Buxton J, Pembrey ME, Malcolm S. Molecular mechanisms in Angelman syndrome: a survey of 93 patients. J Med Genet 1993;30: 895-902.","journal-title":"J Med Genet"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1038\/ng0495-395","article-title":"Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome","volume":"9","author":"Buiting, K.; Saitoh, S.; Gross, S.","year":"1995","unstructured":"Buiting K, Saitoh S, Gross S, et al. Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. Nature Genet 1995;9:395-400.","journal-title":"15. Nature Genet"},{"key":"ref_21","first-page":"733","article-title":"Invited editorial. New insights reveal complex mechanisms involved in genomic imprinting","volume":"54","author":"Nicholls, R.D.","year":"1994","unstructured":"Nicholls RD. Invited editorial. New insights reveal complex mechanisms involved in genomic imprinting. Am J Hum Genet 1994;54:733-40.","journal-title":"Am J Hum Genet"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1136\/jmg.26.2.73","article-title":"The association of Angelman's syndrome with deletions within 15ql1-13","volume":"26","author":"Pembrey, M.; Fennell, S.J.; van den Berghe, J.","year":"1989","unstructured":"Pembrey M, Fennell SJ, van den Berghe J, et al. The association of Angelman's syndrome with deletions within 15ql1-13. J Med Genet 1989;26:73-7.","journal-title":"J Med Genet"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1002\/ajmg.1320520117","article-title":"Comparison of high resolution chromosome banding and fluorescence in situ hybridisation (FISH) for the laboratory evaluation of Prader-Willi syndrome and Angelman syndrome","volume":"52","author":"Delach, J.A.; Rosengren, S.S.; Kaplan, L.; Greenstein, R.M.; Cassidy, S.B.; Benn, P.A.","year":"1994","unstructured":"Delach JA, Rosengren SS, Kaplan L, Greenstein RM, Cassidy SB, Benn PA. Comparison of high resolution chromosome banding and fluorescence in situ hybridisation (FISH) for the laboratory evaluation of Prader-Willi syndrome and Angelman syndrome. Am J Med Genet 1994; 52:85-91.","journal-title":"Am J Med Genet"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1002\/ajmg.1320520207","article-title":"Molecular and clinical study of 61 Angelman syndrome patients","volume":"52","author":"Saitoh, S.; Harada, N.; Jinno, Y.","year":"1994","unstructured":"Saitoh S, Harada N, Jinno Y, et al. Molecular and clinical study of 61 Angelman syndrome patients. Am J Med Genet 1994;52: 158-63.","journal-title":"Am J Med Genet"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1136\/adc.72.5.397","article-title":"Comparison of high resolution cytogenetics, fluorescence in situ hybridisation (FISH) and DNA studies to validate the diagnosis of Prader-Willi and Angelman syndrome","volume":"72","author":"Smith, A.; Prasad, M.; Deng, Z.M.; Robson, L.; Woodage, T.; Trent, R.J.","year":"1995","unstructured":"Smith A, Prasad M, Deng ZM, Robson L, Woodage T, Trent RJ. Comparison of high resolution cytogenetics, fluorescence in situ hybridisation (FISH) and DNA studies to validate the diagnosis of Prader-Willi and Angelman syndrome. Arch Dis Child 1995;72:397-401.","journal-title":"Arch Dis Child"},{"key":"ref_26","first-page":"54","article-title":"DNA deletion and its parental origin in Angelman syndrome patients","volume":"41","author":"Hamabe, J.; Kuroki, Y.; Imaizumi, K.","year":"1991","unstructured":"Hamabe J, Kuroki Y, Imaizumi K, et al. DNA deletion and its parental origin in Angelman syndrome patients. Am _7 Med Genet 1991;41:54-63.","journal-title":"Am _7 Med Genet"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1002\/ajmg.1320460104","article-title":"Cytogenetic and molecular analysis in Angelman syndrome","volume":"46","author":"Zackowski, J.L.; Nicholls, R.D.; Gray, B.A.","year":"1993","unstructured":"Zackowski JL, Nicholls RD, Gray BA, et al. Cytogenetic and molecular analysis in Angelman syndrome. Am.7 Med Genet 1993;46:7-1 1.","journal-title":"Am.7 Med Genet"},{"key":"ref_28","first-page":"813","article-title":"Novel patterns of inheritance of genetic disease are illustrated by the Angelman syndrome","volume":"158","author":"Deng, Z.M.; Woodage, T.J.; Smart, R.; Smith, A.; Trent, R.J.","year":"1993","unstructured":"Deng ZM, Woodage TJ, Smart R, Smith A, Trent RJ. Novel patterns of inheritance of genetic disease are illustrated by the Angelman syndrome. MedjAust 1993;158:813-16.","journal-title":"MedjAust"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1002\/ajmg.1320540308","article-title":"A variety of genetic mechanisms are associated with the Prader-Willi syndrome","volume":"54","author":"Woodage, T.; Deng, Z.M.; Prasad, M.","year":"1994","unstructured":"Woodage T, Deng ZM, Prasad M, et al. A variety of genetic mechanisms are associated with the Prader-Willi syndrome. Am _7 Med Genet (Neuro Psych Genet) 1994;54: 219-26.","journal-title":"Am _7 Med Genet (Neuro Psych Genet)"},{"key":"ref_30","first-page":"345","article-title":"Investigations with fluorescence in situ hybridisation (FISH) demonstrate loss of the telomeres on the reciprocal chromosome in three unbalanced translocations involving chromosome 15 in Prader-Willi and Angelman syndrome","volume":"96","author":"Jauch, A.; Robson, L.; Smith, A.","year":"1995","unstructured":"Jauch A, Robson L, Smith A. Investigations with fluorescence in situ hybridisation (FISH) demonstrate loss of the telomeres on the reciprocal chromosome in three unbalanced translocations involving chromosome 15 in Prader-Willi and Angelman syndrome. Hum Genet 1995; 96:345-9.","journal-title":"Hum Genet"},{"key":"ref_31","first-page":"77","article-title":"A severely retarded male with deletion of chromosomes 15(pter-ql3) and 10(q26-qter)","volume":"19","author":"Smith, A.; den Dulk, G.","year":"1982","unstructured":"Smith A, den Dulk G. A severely retarded male with deletion of chromosomes 15(pter-ql3) and 10(q26-qter). _7 Med Genet 1982;19:77."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1002\/ajmg.1320350305","article-title":"Cytogenetic and molecular study of the Angelman syndrome","volume":"35","author":"Imaizumi, K.; Takada, F.; Kuroki, Y.; Naritomi, K.; Hamabe, J.; Niikawa, N.","year":"1990","unstructured":"Imaizumi K, Takada F, Kuroki Y, Naritomi K, Hamabe J, Niikawa N. Cytogenetic and molecular study of the Angelman syndrome. Am _7 Med Genet 1990;35:314-18.","journal-title":"Am _7 Med Genet"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1136\/adc.71.5.441","article-title":"Diagnosis in Prader-Willi syndrome","volume":"71","author":"Chu, C.E.; Cooke, A.; Shephenson, J.B.P.","year":"1994","unstructured":"Chu CE, Cooke A, Shephenson JBP, et al. Diagnosis in Prader-Willi syndrome. Arch Dis Child 1994;71:441-2.","journal-title":"Arch Dis Child"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1136\/adc.70.1.58","article-title":"The Prader-Willi syndrome","volume":"70","author":"Donaldson, M.D.C.; Chu, C.E.; Cooke, A.; Wilson, A.; Greene, S.A.; Stephenson, J.B.P.","year":"1994","unstructured":"Donaldson MDC, Chu CE, Cooke A, Wilson A, Greene SA, Stephenson JBP. The Prader-Willi syndrome. Arch Dis Child 1994;70:58-63.","journal-title":"Arch Dis Child"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1002\/ajmg.1320510109","article-title":"Angelman syndrome due to paternal uniparental disomy of chromosome 15; a milder phenotype?","volume":"51","author":"Bottani, A.; Robinson, W.P.; DeLozier-Blanchet, C.D.","year":"1994","unstructured":"Bottani A, Robinson WP, DeLozier-Blanchet CD, et al. Angelman syndrome due to paternal uniparental disomy of chromosome 15; a milder phenotype? Am _7 Med Genet 1994;51:35-40.","journal-title":"Am _7 Med Genet"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1056\/NEJM199203193261206","article-title":"Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6","volume":"326","author":"Smeets, D.F.C.M.; Hamel, B.C.J.; Nelen, M.R.","year":"1992","unstructured":"Smeets DFCM, Hamel BCJ, Nelen MR. Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15. N Engl _r Med 1992;326:807-1 1.","journal-title":"Engl _r Med"},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1002\/ajmg.1320450522","article-title":"Paternal uniparental disomy in a child with a balanced 15; 15 translocation and Angelman syndrome","volume":"45","author":"Freeman, S.B.; May, K.M.; Pettay, D.; Fernhoff, P.M.; Hassold, T.J.","year":"1993","unstructured":"Freeman SB, May KM, Pettay D, Fernhoff PM, Hassold TJ. Paternal uniparental disomy in a child with a balanced 15; 15 translocation and Angelman syndrome. Am _7 Med Genet 1993;45:625-30.","journal-title":"Am _7 Med Genet"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1002\/ana.410320406","article-title":"Paternal uniparental disomy of chromosome 15 in a child with Angelman syndrome","volume":"32","author":"Nicholls, R.D.; Pai, G.S.; Gottlieb, W.; Cantu, E.S.","year":"1992","unstructured":"Nicholls RD, Pai GS, Gottlieb W, Cantu ES. Paternal uniparental disomy of chromosome 15 in a child with Angelman syndrome. Ann Neurol 1992;32:512-18.","journal-title":"Ann Neurol"},{"key":"ref_39","first-page":"1219","article-title":"and clinical investigation of Prader-Willi syndrome patients","volume":"49","author":"Robinson, W.P.; Bottani, A.; Yagang, X.","year":"1991","unstructured":"Robinson WP, Bottani A, Yagang X, et al. Molecular, cytogenetic, and clinical investigation of Prader-Willi syndrome patients. Am I Hum Genet 1991;49:1219-34.","journal-title":"Am I Hum Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.33.2.107","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T17:17:14Z","timestamp":1760721434000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.33.2.107"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1996,2]]},"references-count":39,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1996,2,1]]},"published-print":{"date-parts":[[1996,2]]}},"alternative-id":["10.1136\/jmg.33.2.107"],"URL":"https:\/\/doi.org\/10.1136\/jmg.33.2.107","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1996,2]]}}}