{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,13]],"date-time":"2025-11-13T07:20:27Z","timestamp":1763018427431,"version":"3.44.0"},"reference-count":16,"publisher":"Mathematical Modelling and Numerical Simulation with Applications","issue":"04","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Chromosome 1p36 deletion accounts for around 1% of cases of intellectual disability. The pattern of clinical features includes developmental delay, hypotonia, seizures, short stature, intellectual disability, vision and hearing deficits, congenital heart disease, and renal abnormalities. The size of deletion can be variable. We report four cases of 1p36 deletion syndrome detected in the past 3 years in a genetic clinic. One patient was detected by next-generation sequencing, another by chromosomal microarray, and the remaining two by multiplex ligation-dependent probe amplification. We discuss the variable presentations in the four children. Early diagnosis enables better prognostication and further reproductive planning.<\/jats:p>","DOI":"10.1055\/s-0041-1732477","type":"journal-article","created":{"date-parts":[[2021,7,28]],"date-time":"2021-07-28T19:07:32Z","timestamp":1627499252000},"page":"342-347","source":"Crossref","is-referenced-by-count":1,"title":["Chromosome 1p36 Deletion Syndrome: Four Patients with Variable Presentations"],"prefix":"10.53391","volume":"12","author":[{"given":"Chakshu","family":"Chaudhry","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Genetic Metabolic Unit, Postgraduate Institute of Medical Education and Research, Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9195-2098","authenticated-orcid":false,"given":"Divya","family":"Kumari","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Genetic Metabolic Unit, Postgraduate Institute of Medical Education and Research, Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7375-9892","authenticated-orcid":false,"given":"Inusha","family":"Panigrahi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Genetic Metabolic Unit, Postgraduate Institute of Medical Education and Research, Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Parminder","family":"Kaur","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Genetic Metabolic Unit, Postgraduate Institute of Medical Education and Research, Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"31409","published-online":{"date-parts":[[2021,7,28]]},"reference":[{"issue":"04","key":"ref1","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1002\/ajmg.c.30154","article-title":"Monosomy 1p36 deletion syndrome","volume":"145C","author":"M Gajecka","year":"2007","journal-title":"Am J Med Genet C Semin Med Genet"},{"issue":"06","key":"ref2","doi-asserted-by":"crossref","first-page":"927","DOI":"10.1111\/cge.13739","article-title":"A new 1p36.13-1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis","volume":"97","author":"L Aagaard Nolting","year":"2020","journal-title":"Clin Genet"},{"issue":"05","key":"ref3","doi-asserted-by":"crossref","first-page":"1200","DOI":"10.1086\/375179","article-title":"Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome","volume":"72","author":"H A Heilstedt","year":"2003","journal-title":"Am J Hum Genet"},{"issue":"02","key":"ref4","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1093\/hmg\/8.2.313","article-title":"Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions","volume":"8","author":"Y Q Wu","year":"1999","journal-title":"Hum Mol Genet"},{"issue":"12","key":"ref5","doi-asserted-by":"crossref","first-page":"3164","DOI":"10.1002\/ajmg.a.34333","article-title":"Minimal genotype--phenotype correlation for small deletions within distal 1p36","volume":"155A","author":"A Buck","year":"2011","journal-title":"Am J Med Genet A"},{"issue":"06","key":"ref6","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1016\/j.ejmg.2006.02.001","article-title":"Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and\/or hyperphagia, learning disabilities and behavioral problems","volume":"49","author":"C S D'Angelo","year":"2006","journal-title":"Eur J Med Genet"},{"issue":"03","key":"ref7","doi-asserted-by":"crossref","first-page":"642","DOI":"10.1086\/515520","article-title":"Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome","volume":"61","author":"S K Shapira","year":"1997","journal-title":"Am J Hum Genet"},{"issue":"02","key":"ref8","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1542\/peds.2007-0929","article-title":"Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation","volume":"121","author":"A Battaglia","year":"2008","journal-title":"Pediatrics"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"bcr0120125503","DOI":"10.1136\/bcr.01.2012.5503","article-title":"Morbid obesity in a child with monosomy 1p36 syndrome","volume":"2012","author":"A Zagalo","year":"2012","journal-title":"BMJ Case Rep"},{"issue":"05","key":"ref10","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1016\/j.braindev.2014.08.002","article-title":"Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications","volume":"37","author":"S Shimada","year":"2015","journal-title":"Brain Dev"},{"issue":"01","key":"ref11","first-page":"176","article-title":"Constitutional 1p36 deletion in a child with neuroblastoma","volume":"52","author":"J A Biegel","year":"1993","journal-title":"Am J Hum Genet"},{"issue":"02","key":"ref12","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1136\/jmg.2004.023861","article-title":"Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or \u201cdeletion with positional effect\u201d syndrome?","volume":"42","author":"R Redon","year":"2005","journal-title":"J Med Genet"},{"issue":"01","key":"ref13","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1038\/ng770","article-title":"Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski-\/- mice","volume":"30","author":"C Colmenares","year":"2002","journal-title":"Nat Genet"},{"issue":"15","key":"ref14","doi-asserted-by":"crossref","first-page":"2870","DOI":"10.1016\/j.yexcr.2008.06.017","article-title":"ATAD 3A and ATAD 3B are distal 1p-located genes differentially expressed in human glioma cell lines and present in vitro anti-oncogenic and chemoresistant properties","volume":"314","author":"A Hubstenberger","year":"2008","journal-title":"Exp Cell Res"},{"issue":"04","key":"ref15","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1111\/j.1399-0004.2007.00876.x","article-title":"Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome","volume":"72","author":"S-HL Kang","year":"2007","journal-title":"Clin Genet"},{"key":"ref17","first-page":"189","article-title":"1p36 deletion syndrome: an update","volume":"8","author":"V K Jordan","year":"2015","journal-title":"Appl Clin Genet"}],"container-title":["Journal of Pediatric Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0041-1732477.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T19:46:04Z","timestamp":1758138364000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0041-1732477"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7,28]]},"references-count":16,"journal-issue":{"issue":"04","published-online":{"date-parts":[[2023,12,29]]},"published-print":{"date-parts":[[2023,12]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0041-1732477","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["2146-4596","2146-460X"],"issn-type":[{"type":"print","value":"2146-4596"},{"type":"electronic","value":"2146-460X"}],"subject":[],"published":{"date-parts":[[2021,7,28]]}}}