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A clear relationship between genotype and phenotype remains to be defined in the 7q deletion syndrome. Three patients (1, 2, and 3) were investigated with 7q terminal deletion and compared with similar deletion cases in the literature in order to stratify the phenotypes associated with 7q35 and 7q36 terminal deletion patients. Patients 1, 2, and 3 were carrying a de novo terminal deletion at bands 7q36.2, 7q35, and 7q36.1, respectively. In patient 3, a small Xq28 duplication was also identified by array\u2010CGH. Our patients presented with heterogeneous phenotypic manifestations, which could imply the possible role of environmental factors (multifactorial inheritance), structural variations in the non\u2010coding regions, penetrance, and\/or polymorphism. The varying length of deletion was also taken into account. Growth retardation was the most frequent symptom found in both 7q35 and 7q36 patients we reviewed. The occurrence of HPE and sacral malformation together was seen in less than 10% of the reviewed cases in both kinds of deletion. HPE was associated mainly in cases with an unbalanced translocation. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37428","type":"journal-article","created":{"date-parts":[[2016,1,29]],"date-time":"2016-01-29T13:23:17Z","timestamp":1454073797000},"page":"896-907","source":"Crossref","is-referenced-by-count":21,"title":["Three new cases of terminal deletion of the long arm of chromosome 7 and literature review to correlate genotype and phenotype manifestations"],"prefix":"10.1002","volume":"170","author":[{"given":"Seemi","family":"Ayub","sequence":"first","affiliation":[{"name":"Division of Genetics Department of Pediatrics Faculty of Medicine and Health Sciences Universit\u00e9 de Sherbrooke Sherbrooke Qu\u00e9bec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Macoura","family":"Gadji","sequence":"additional","affiliation":[{"name":"Division of Genetics Department of Pediatrics Faculty of Medicine and Health Sciences Universit\u00e9 de Sherbrooke Sherbrooke Qu\u00e9bec Canada"},{"name":"Manitoba Institute of Cell Biology (MICB) CancerCare Manitoba (CCMB) The Genomic Centre for Cancer Research and Diagnosis (GCCRD) The University of Manitoba Winnipeg Manitoba Canada"},{"name":"Laboratory of Hematology and Immunology National Centre of Blood Transfusion of Dakar (CNTS) The Cheikh Anta Diop University of Dakar (UCAD) Dakar Fann Senegal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kada","family":"Krabchi","sequence":"additional","affiliation":[{"name":"Division of Genetics Department of Pediatrics Faculty of Medicine and Health Sciences Universit\u00e9 de Sherbrooke Sherbrooke Qu\u00e9bec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvie","family":"C\u00f4t\u00e9","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Faculty of Medicine and Health Sciences Universit\u00e9 de Sherbrooke Sherbrooke Qu\u00e9bec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean","family":"Gekas","sequence":"additional","affiliation":[{"name":"Centre de Recherche du Centre Hospitalier Universitaire de Qu\u00e9bec (CHUQ) Division of Medical Genetics Unit\u00e9 de Diagnostic Pr\u00e9natal Faculty of Medicine Laval University Quebec City Qu\u00e9bec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Maranda","sequence":"additional","affiliation":[{"name":"Division of Genetics Department of Pediatrics Faculty of Medicine and Health Sciences Universit\u00e9 de Sherbrooke Sherbrooke Qu\u00e9bec Canada"},{"name":"Division of Medical Genetics CHUQ Faculty of Medicine Laval University Quebec City Qu\u00e9bec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R\u00e9gen","family":"Drouin","sequence":"additional","affiliation":[{"name":"Division of Genetics Department of Pediatrics Faculty of Medicine and Health Sciences Universit\u00e9 de Sherbrooke Sherbrooke Qu\u00e9bec Canada"},{"name":"Division of Medical Genetics CHUQ Faculty of Medicine Laval University Quebec City Qu\u00e9bec Canada"},{"name":"Department of Biological Sciences Faculty of Sciences Universit\u00e9 du Qu\u00e9bec \u00e0 Montr\u00e9al Montreal Qu\u00e9bec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,1,29]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1159\/000302285"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33918"},{"key":"e_1_2_9_4_1","volume-title":"The AGT cytogenetics laboratory manual","author":"Barch MJ","year":"1997"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0396-229"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35713"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/302723"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1196-353"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.11.899"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1989.tb03200.x"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199910)19:10<986::AID-PD672>3.0.CO;2-H"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.137.2.395"},{"key":"e_1_2_9_13_1","first-page":"93","article-title":"A case of?6p\u2010 chromosomal aberration","volume":"115","author":"De Grouchy J","year":"1968","journal-title":"Am J Dis Child"},{"key":"e_1_2_9_14_1","first-page":"107","article-title":"High\u2010resolution R\u2010banding at the 1250\u2010band level. 1. 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