{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T06:28:33Z","timestamp":1791872913361,"version":"4.3.4"},"reference-count":12,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2020,7]]},"abstract":"<jats:p>The clinical phenotype of 1q21.1 microdeletion syndrome is highly heterogeneous. It is characterized by dysmorphic facial features, microcephaly, and developmental delay. Several congenital defects, including cardiac, ocular, skeletal anomalies, and psychiatric or behavioural abnormalities, have also been described. Here, we report on two siblings with substantial intrafamilial phenotypic variability carrying a heterozygous deletion of the 1q21.1 region spanning a known critical genomic area (~1.35\u2009Mb). The microdeletion was inherited from the unaffected father. Patients described here show a spectrum of clinical features, a portion of which overlap with those previously reported in patients with 1q21.1 microdeletions. In addition, we review the clinical reports of 66 individuals with this condition. These findings extend and substantiate the current clinical understanding of recurrent copy number variations in the 1q21.1 region.<\/jats:p>","DOI":"10.1097\/mcd.0000000000000327","type":"journal-article","created":{"date-parts":[[2020,5,27]],"date-time":"2020-05-27T14:21:16Z","timestamp":1590589276000},"page":"127-131","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":18,"title":["Recurrent 1q21.1 deletion syndrome: report on variable expression, nonpenetrance and review of literature"],"prefix":"10.1097","volume":"29","author":[{"given":"Priyanka","family":"Upadhyai","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eram Fatima","family":"Amiri","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vishal Singh","family":"Guleria","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie L.","family":"Bielas","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katta Mohan","family":"Girisha","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anju","family":"Shukla","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2020,5,25]]},"reference":[{"key":"R1-20260121","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1038\/gim.2015.78","article-title":"Clinical phenotype of the recurrent 1q21.1 copy-number variant.","volume":"18","author":"Bernier","year":"2016","journal-title":"Genet Med"},{"key":"R2-20260121","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1002\/ajmg.a.35730","article-title":"Expanding the phenotype associated with 17q12 duplication: case report and review of the literature.","volume":"161A","author":"Bierhals","year":"2013","journal-title":"Am J Med Genet A"},{"key":"R3-20260121","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1186\/1471-2350-10-144","article-title":"BAC array CGH in patients with velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1.","volume":"10","author":"Brunet","year":"2009","journal-title":"BMC Med Genet"},{"key":"R4-20260121","doi-asserted-by":"crossref","first-page":"1466","DOI":"10.1038\/ng.279","article-title":"Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.","volume":"40","author":"Brunetti-Pierri","year":"2008","journal-title":"Nat Genet"},{"key":"R5-20260121","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1186\/s13052-017-0380-x","article-title":"Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series.","volume":"43","author":"Bus\u00e8","year":"2017","journal-title":"Ital J Pediatr"},{"key":"R6-20260121","doi-asserted-by":"crossref","first-page":"1429","DOI":"10.1161\/01.RES.0000130528.72330.5c","article-title":"Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease.","volume":"94","author":"Christiansen","year":"2004","journal-title":"Circ Res"},{"key":"R7-20260121","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1186\/1866-1955-4-15","article-title":"Association testing of copy number variants in schizophrenia and autism spectrum disorders.","volume":"4","author":"Crespi","year":"2012","journal-title":"J Neurodev Disord"},{"key":"R8-20260121","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1016\/j.ejmg.2012.12.004","article-title":"Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: rare association with pulmonary valve stenosis.","volume":"56","author":"Digilio","year":"2013","journal-title":"Eur J Med Genet"},{"key":"R9-20260121","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1159\/000450971","article-title":"Interstitial 1q21.1 microdeletion is associated with severe skeletal anomalies, dysmorphic face and moderate intellectual disability.","volume":"7","author":"Gamba","year":"2016","journal-title":"Mol Syndromol"},{"key":"R10-20260121","doi-asserted-by":"crossref","first-page":"1685","DOI":"10.1056\/NEJMoa0805384","article-title":"Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.","volume":"359","author":"Mefford","year":"2008","journal-title":"N Engl J Med"},{"key":"R11-20260121","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1126\/science.1138659","article-title":"Strong association of de novo copy number mutations with autism.","volume":"316","author":"Sebat","year":"2007","journal-title":"Science"},{"key":"R12-20260121","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1038\/nature07229","article-title":"Large recurrent microdeletions associated with schizophrenia.","volume":"455","author":"Stefansson","year":"2008","journal-title":"Nature"}],"container-title":["Clinical 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