{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:06:09Z","timestamp":1761717969852},"reference-count":118,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,4]],"date-time":"2005-06-04T00:00:00Z","timestamp":1117843200000},"content-version":"vor","delay-in-days":4294,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In some autosomal imbalance syndromes an additional imbalance interferes with the occurrence of the anomalies typical of the syndrome itself. For example, polydactyly was found in patients with \u201cpure\u201d del(3p) more frequently (11\/23) than in patients where these deletions were associated with different partial trisomies (2\/28). The opposite situation was shown in del(7q) syndrome where various defects of the holoprosencephalic group were found to be rarer in patients with \u201cpure\u201d deletions, than in cases with simultaneous occurrence of various partial trisomies. It suggests the importance of gene interaction in determining the phenotypic picture of autosomal imbalance syndromes. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320470323","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:06:03Z","timestamp":1118509563000},"page":"410-416","source":"Crossref","is-referenced-by-count":14,"title":["Autosomal imbalance syndromes: Genetic interactions and the origin of congenital malformations in aneuploidy syndromes"],"prefix":"10.1002","volume":"47","author":[{"given":"Iosif W.","family":"Lurie","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,4]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00281889"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1601-5223.1984.tb00112.x"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01899740"},{"issue":"6","key":"e_1_2_1_5_1","first-page":"383","article-title":"Trisomy 11q (q21\u2010qter)","volume":"14","author":"Bader PI","year":"1978","journal-title":"BD:OAS"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320190103"},{"key":"e_1_2_1_7_1","first-page":"209","volume-title":"Klinische Genetik in der P\u00e4diatrie","author":"Baumann W","year":"1980"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.21.4.307"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1980.tb00138.x"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320340312"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00278876"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320360112"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1981.02130360023009"},{"key":"e_1_2_1_14_1","first-page":"269","article-title":"Holoprosencephaly as a result of an unbalanced familial translocation rcp(7;18)(q36;q21)","volume":"10","author":"Borovik CL","year":"1987","journal-title":"Rev Brasil Genet"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.23.5.446"},{"key":"e_1_2_1_16_1","first-page":"187","article-title":"Monosomia parcial terminal en mosaico del brazo corto del cromosoma 3, en gemelos monocigoticos discordantes, 46,XY\/46,XY,del(3)(p25)","volume":"26","author":"Bueno I","year":"1987","journal-title":"Anal Esp Pediatr"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1989.tb03200.x"},{"key":"e_1_2_1_18_1","first-page":"41","article-title":"Simultaneous trisomy 10q24\u2013qter and monosomy 4p16: An example of epistasis at the chromosomal level","volume":"24","author":"Cant\u00fa JM","year":"1981","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320140214"},{"key":"e_1_2_1_20_1","first-page":"191","article-title":"Frontonasal malformation and dup(2q) syndrome","volume":"4","author":"Chen H","year":"1988","journal-title":"Am J Med Gent, Suppl."},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320340232"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970121003"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1017\/CBO9780511529702.004"},{"key":"e_1_2_1_24_1","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1542\/peds.61.4.611","article-title":"Chromosome 3 duplication q\/deletion p syndrome","volume":"61","author":"Fineman RM","year":"1978","journal-title":"Pediatrics"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1978.tb02127.x"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.24.5.300"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00278736"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00287183"},{"key":"e_1_2_1_29_1","first-page":"162","article-title":"8p trisomy in a malformed foetus","volume":"25","author":"Fryns JP","year":"1982","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_1_30_1","first-page":"387","article-title":"The phenotype of partial monosomy 3(p25\u2010pter) observed in two unrelated patients","volume":"20","author":"Garcia Sagredo JM","year":"1981","journal-title":"Clin Gent"},{"key":"e_1_2_1_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320260134"},{"key":"e_1_2_1_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320200217"},{"key":"e_1_2_1_33_1","first-page":"119","article-title":"D\u00e9l\u00e9tion partielle du bras court du chromosome 3","volume":"23","author":"Gonzales J","year":"1980","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_1_34_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00430351"},{"key":"e_1_2_1_35_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00283584"},{"key":"e_1_2_1_36_1","first-page":"93","article-title":"A case of ?6p\u2010chromosomal aberration","volume":"115","author":"de Grouchy J","year":"1968","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_37_1","unstructured":"GurrieriF KraussCM SchindlerD SchinzelA KunzeJ WegnerRD FrynsJP SchwartzS PettenatiMJ KniselyAS PunnettHH TsuiLC MuenkeM(1992):Clinical cytogenetic and molecular genetic studies in patients with holoprosencephaly (HPE) and terminal deletions of chromosome 7q. Proc. 13th DW Smith Workshop on Malformations and Morphogenesis Winston\u2010Salem 59."},{"key":"e_1_2_1_38_1","first-page":"839","article-title":"A case of partial trisomy for the long arm of chromosome 2","volume":"33","author":"Gyoten S","year":"1984","journal-title":"Jpn J Med Technol"},{"key":"e_1_2_1_39_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.70.8.630"},{"key":"e_1_2_1_40_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1977.tb00932.x"},{"key":"e_1_2_1_41_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320400216"},{"key":"e_1_2_1_42_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.19.1.71"},{"key":"e_1_2_1_43_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.60.8.748"},{"key":"e_1_2_1_44_1","first-page":"266","article-title":"Karyotype\u2010phenotype analysis: 9p deletion versus 10q2 duplication","volume":"29","author":"Hoo JJ","year":"1986","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_1_45_1","first-page":"347","article-title":"Distal 9q trisomy syndrome: Report of the first Oriental case and literature review","volume":"23","author":"Houdou S","year":"1987","journal-title":"Acta Neonatol Jpn"},{"key":"e_1_2_1_46_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00274062"},{"key":"e_1_2_1_47_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01871254"},{"key":"e_1_2_1_48_1","first-page":"22B","article-title":"Hypopigmentation of the skin and hair in two cases with distal 2q trisomy","volume":"44","author":"Kasai R","year":"1991","journal-title":"Teratology"},{"key":"e_1_2_1_49_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01896137"},{"key":"e_1_2_1_50_1","unstructured":"KeelingJW(1992): Personal communication."},{"key":"e_1_2_1_51_1","first-page":"279","article-title":"Minor chromosome abnormalities in prenatal diagnosis: A counselling dilemma","volume":"47","author":"Kent CM","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_52_1","unstructured":"KirkpatrickS(1992): Personal communication."},{"key":"e_1_2_1_53_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.12.846"},{"key":"e_1_2_1_54_1","first-page":"111","article-title":"Holoprosencephaly in a fetus with a 46, XX, der(7),t(7;8)(q36.1;p12)mat karyotype","volume":"33","author":"Kleczkowska A","year":"1990","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_1_55_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01901735"},{"issue":"7","key":"e_1_2_1_56_1","first-page":"46","volume":"7","author":"Kousseff BG","year":"1977","journal-title":"A partial long arm deletion of chromosome"},{"key":"e_1_2_1_56_2","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1136\/jmg.14.2.144","volume":"14","journal-title":"J Med Genet"},{"key":"e_1_2_1_57_1","first-page":"695","article-title":"Trisomie 12p. A propos d'une nouvelle observation","volume":"27","author":"Kubryk N","year":"1980","journal-title":"Ann P\u00e9diat"},{"key":"e_1_2_1_58_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320430336"},{"key":"e_1_2_1_59_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320270105"},{"key":"e_1_2_1_60_1","first-page":"177","article-title":"La monosomie 7qter. A props d'une observation","volume":"38","author":"Lambert JC","year":"1981","journal-title":"Arch Fran', P\u00e9diat"},{"key":"e_1_2_1_61_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0492-29"},{"key":"e_1_2_1_62_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.11.801"},{"key":"e_1_2_1_63_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1984.tb04373.x"},{"key":"e_1_2_1_64_1","first-page":"306","article-title":"Holoprosencephaly","volume":"21","author":"Martin NJ","year":"1985","journal-title":"Aust Paed J"},{"key":"e_1_2_1_65_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320140418"},{"key":"e_1_2_1_66_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01883753"},{"key":"e_1_2_1_67_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.23.5.466"},{"key":"e_1_2_1_68_1","first-page":"59 A","article-title":"HLA investigation and phenotype correlation of two siblings with trisomy 6p12pter","volume":"30","author":"McGillivray BC","year":"1978","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_69_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.24.10.629"},{"key":"e_1_2_1_70_1","unstructured":"MeerB BackE WolffG HameisterH(1982):Segregation von komplexen chromosomalen Rearrangements in zwei Familien. In \u201cKlinische Genetik in der P\u00e4diatrie \u201d 3rd Symposium. Kiel 439\u2013444."},{"key":"e_1_2_1_71_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320360432"},{"key":"e_1_2_1_72_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00441927"},{"key":"e_1_2_1_73_1","first-page":"118","article-title":"Phenotypic expression of microdeletion 3(p26\u2010pter): A first report","volume":"40","author":"Moncla A","year":"1991","journal-title":"Clin Genet"},{"key":"e_1_2_1_74_1","first-page":"95","article-title":"Deletion 3p25: another contiguous gene syndrome","volume":"47","author":"Mowrey PN","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_75_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320340222"},{"key":"e_1_2_1_76_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320350225"},{"key":"e_1_2_1_77_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440508"},{"key":"e_1_2_1_78_1","first-page":"14","article-title":"A case of partial deletion of the long arm of chromosome 7 (7q34\u20107qter)","volume":"30","author":"Nistrup Madsen H","year":"1983","journal-title":"Dan Med Bull"},{"key":"e_1_2_1_79_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00281010"},{"key":"e_1_2_1_80_1","first-page":"323","article-title":"Familial trisomy 11p resulting from a balanced paternal translocation: 3 new cases including first trimester diagnosis","volume":"36","author":"Ogur G","year":"1988","journal-title":"J G\u00e9n\u00e9t Hum"},{"key":"e_1_2_1_81_1","first-page":"173","article-title":"Hereditary 3;6 translocation: three cases of multiple malformations with partial trisomy 6p21\u2010pter","volume":"23","author":"Pagano L","year":"1980","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_1_82_1","first-page":"138\u2010A","article-title":"Distal trisomy 1q and monosomy 7q in two cousins due to paternal translocation (1;7)(q32;q32)","volume":"34","author":"Penchaszadeh VB","year":"1982","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_83_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320340220"},{"key":"e_1_2_1_84_1","first-page":"169","article-title":"F\u00e4miliare H\u00e4fung von Cyclopie \u00fcber mehrere Generationen","volume":"66","author":"Pfitzer P","year":"1982","journal-title":"Verh Dtsch Ges Pathol"},{"key":"e_1_2_1_85_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320330115"},{"key":"e_1_2_1_86_1","first-page":"273","article-title":"Holoprosencephaly due to familial translocaton t(5;7)(q33;q34): nonrandom association of 7q34\u2010qter","volume":"49","author":"Rao N","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_87_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1986.tb00581.x"},{"key":"e_1_2_1_88_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1983.tb00087.x"},{"key":"e_1_2_1_89_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.7.479"},{"key":"e_1_2_1_90_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.18.1.64"},{"key":"e_1_2_1_91_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320180119"},{"key":"e_1_2_1_92_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320240128"},{"key":"e_1_2_1_93_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320300309"},{"key":"e_1_2_1_94_1","first-page":"19","article-title":"Chromosome 3p monosomy","volume":"7","author":"Schroer RJ","year":"1988","journal-title":"Proc Grenwood Genet Center"},{"key":"e_1_2_1_95_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320150119"},{"key":"e_1_2_1_96_1","first-page":"309","article-title":"Terminal deletion of the short arm of chromosome 3, del(3pter\u2010p25): A recognizable syndrome","volume":"42","author":"Schwyzer U","year":"1987","journal-title":"Helv Paediat Acta"},{"key":"e_1_2_1_97_1","first-page":"46","volume":"3","author":"Shawe DJ","year":"1983","journal-title":"A child with partial trisomy of chromosome 17 and partial monosomy of chromosome"},{"key":"e_1_2_1_97_2","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1136\/jmg.20.5.383","volume":"20","journal-title":"J Med Genet"},{"key":"e_1_2_1_98_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1973.tb01932.x"},{"key":"e_1_2_1_99_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320240207"},{"key":"e_1_2_1_100_1","first-page":"88\u2010A","article-title":"Terminal deletion of the short arm of chromosome 3 associated with dermatoglyphic changes","volume":"32","author":"Smith GF","year":"1980","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_101_1","first-page":"159","article-title":"Terminal long arm deletion of chromosome 7 and retino\u2010choroidal coloboma","volume":"25","author":"Taysi K","year":"1982","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_1_102_1","first-page":"79","article-title":"Partial trisomy 10q in three unrelated patients","volume":"26","author":"Taysi K","year":"1983","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_1_103_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320290206"},{"key":"e_1_2_1_104_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320030403"},{"key":"e_1_2_1_105_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1986.tb00556.x"},{"key":"e_1_2_1_106_1","first-page":"67","article-title":"7q\u2010 mosacism in identical twins","volume":"37","author":"Tsukamoto H","year":"1992","journal-title":"Jpn J Hum Genet"},{"key":"e_1_2_1_107_1","first-page":"167","article-title":"Trisomie 9p: Deux nouvelles observations","volume":"17","author":"Turleau C","year":"1974","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_1_108_1","first-page":"242","article-title":"Monosomie 7qter","volume":"22","author":"Turleau C","year":"1979","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_1_109_1","unstructured":"Van MaldergemL CharonA de HalleuxC FourneauC GillerotY(1991):The 7q\u2010 syndrome: A recognizable chromosomal syndrome. Xth Annual Meeting Europ Soc Hum Genet Leuven 82."},{"key":"e_1_2_1_110_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00445671"},{"key":"e_1_2_1_111_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1978.02120260045012"},{"key":"e_1_2_1_112_1","first-page":"257","article-title":"Monosomia 7qter: Due nuovi casi di una patologia cromosomica con disturbi aspecifici dello sviluppo pre\u2010 e postnatale","volume":"42","author":"Vianello MG","year":"1990","journal-title":"Minerva Pediat"},{"key":"e_1_2_1_113_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb02283.x"},{"key":"e_1_2_1_114_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170207"},{"key":"e_1_2_1_115_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00390442"},{"key":"e_1_2_1_116_1","first-page":"113","article-title":"A paternal balanced translocation [t(7;22)(q32;q13.3)] leading to reciprocal unbalanced karyotypes in two consecutive pregnancies","volume":"33","author":"Zackowski JL","year":"1990","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_1_117_1","first-page":"263","article-title":"De novo terminal deletion del(3)(p25\u2010pter)","volume":"37","author":"Zergollern L","year":"1983","journal-title":"Acta Med Iugosl"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320470323","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320470323","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T22:34:22Z","timestamp":1698186862000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320470323"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,9]]},"references-count":118,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1993,9]]}},"alternative-id":["10.1002\/ajmg.1320470323"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320470323","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,9]]}}}