{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T22:11:14Z","timestamp":1789423874906,"version":"build-2803163510"},"reference-count":15,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,4]]},"abstract":"<jats:p>Structural rearrangements of chromosome band 1p31p32 are rare, and their phenotypic consequences remain poorly delineated. Up to 12 patients with learning difficulties, developmental delay, multiple congenital anomalies and microdeletion of the chromosome band 1p31p32 have been described. Inheritance of this deletion has not been reported previously. We describe the inheritance of the 1p32 deletion and discuss the relevance of this deletion to the described phenotype. The differences in clinical and molecular characteristics between the proband and other published reports are reviewed. Patients were evaluated in Genetics Clinic with history, examination and investigation. The existing literature on interstitial deletions of 1p was reviewed. Here, we report on a three-generation family, where the index patient was an adult female with learning difficulty, dysmorphic features, microcephaly, ambiguous genitalia, congenital hip dislocation and brachydactyly in whom a maternally inherited 1.45\u2009Mbp interstitial deletion was detected at 1p32.3. Both her mother and maternal grandmother have learning difficulties and dysmorphic features. There are 14 OMIM genes in the deleted region including <jats:italic toggle=\"yes\">LRP8<\/jats:italic> and <jats:italic toggle=\"yes\">DMRTB1<\/jats:italic>. The <jats:italic toggle=\"yes\">NFIA<\/jats:italic> gene is not deleted in this family. The first report of a familial 1p32 microdeletion in three generations of a family carrying the smallest reported a deletion involving this region and brachydactyly as a previously unreported feature.<\/jats:p>","DOI":"10.1097\/mcd.0000000000000209","type":"journal-article","created":{"date-parts":[[2017,12,14]],"date-time":"2017-12-14T14:08:00Z","timestamp":1513260480000},"page":"36-41","source":"Crossref","is-referenced-by-count":3,"title":["Clinical and molecular characterization of the first familial report of 1p32 microdeletion"],"prefix":"10.1097","volume":"27","author":[{"given":"Schaida","family":"Schirwani","sequence":"first","affiliation":[{"name":"Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kath","family":"Smith","sequence":"additional","affiliation":[{"name":"Sheffield Diagnostic Genetic Service"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meena","family":"Balasubramanian","sequence":"additional","affiliation":[{"name":"Sheffield Clinical Genetics Service, Sheffield Children\u2019s NHS Foundation Trust, Sheffield, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-20230915","doi-asserted-by":"crossref","first-page":"636","DOI":"10.1136\/jmg.32.8.636","article-title":"Developmental delay and dysmorphic features associated with a previously undescribed deletion on chromosome 1","volume":"32","author":"Barton","year":"1995","journal-title":"J Med Genet"},{"key":"R2-20230915","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1136\/jmg.16.4.323","article-title":"De novo interstitial deletion del(1)(p21p32)","volume":"16","author":"Bene","year":"1979","journal-title":"J Med Genet"},{"key":"R3-20230915","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1186\/s13039-016-0219-y","article-title":"CANPMR syndrome and chromosome 1p32-p31 deletion syndrome coexist in two related individuals affected by simultaneous haplo-insufficiency of CAMTA1 and NIFA genes","volume":"9","author":"Coci","year":"2016","journal-title":"Mol Cytogenet"},{"key":"R4-20230915","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1016\/j.ajhg.2009.03.010","article-title":"DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources","volume":"84","author":"Firth","year":"2009","journal-title":"Am J Hum Genet"},{"key":"R5-20230915","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1016\/j.ejmg.2014.03.004","article-title":"Microdeletion of 1p32-p31 involving NFIA in a patient with hypoplastic corpus callosum, ventriculomegaly, seizures and urinary tract defects","volume":"57","author":"Ji","year":"2014","journal-title":"Eur J Med Genet"},{"key":"R6-20230915","doi-asserted-by":"crossref","first-page":"2406","DOI":"10.1002\/ajmg.a.37178","article-title":"Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomalies","volume":"167","author":"Kehrer","year":"2015","journal-title":"Am J Med Genet A"},{"key":"R7-20230915","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1007\/s00431-009-1057-2","article-title":"A novel 1p31.3p32.2 deletion involving the NFIA gene detected by array CGH in a patient with macrocephaly and hypoplasia of the corpus callosum","volume":"169","author":"Koehler","year":"2009","journal-title":"Eur J Pediatr"},{"key":"R8-20230915","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1186\/s13039-016-0234-z","article-title":"Comparative deletion mapping at 1p31.3\u2013p32.2 implies NFIA responsible for intellectual disability coupled with macrocephaly and the presence of several other genes for syndromic intellectual disability","volume":"9","author":"Labonne","year":"2016","journal-title":"Mol Cytogenet"},{"key":"R9-20230915","doi-asserted-by":"crossref","first-page":"e80","DOI":"10.1371\/journal.pgen.0030080","article-title":"NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects","volume":"3","author":"Lu","year":"2007","journal-title":"PLoS Genet"},{"key":"R10-20230915","doi-asserted-by":"crossref","first-page":"2284","DOI":"10.1002\/ajmg.a.32454","article-title":"Deletion (1)(p32.2\u2013p32.3) detected by array-CGH in a patient with developmental delay\/mental retardation, dysmorphic features and low cholesterol: a new microdeletion syndrome?","volume":"146A","author":"Mulatinho","year":"2008","journal-title":"Am J Med Genet A"},{"key":"R11-20230915","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1006\/geno.2002.6711","article-title":"Novel paralogy relations among human chromosomes support a link between the phylogeny of double-sex-related genes and the evolution of sex determination","volume":"79","author":"Ottolenghi","year":"2002","journal-title":"Genomics"},{"key":"R12-20230915","first-page":"507","article-title":"De novo interstitial deletion of chromosome 1p with absent corpus callosum \u2013 a case report","volume":"26","author":"Sivasankaran","year":"1997","journal-title":"Ann Acad Med Singapore"},{"key":"R13-20230915","doi-asserted-by":"crossref","first-page":"696","DOI":"10.1016\/j.neuron.2015.03.033","article-title":"LRP8-reelin-regulated neuronal enhancer signature underlying learning and memory formation","volume":"86","author":"Telese","year":"2015","journal-title":"Neuron"},{"key":"R14-20230915","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1136\/jmg.28.8.539","article-title":"De novo interstitial deletion of 1p (pter----p34.1::p32.3----qter)","volume":"28","author":"Yoshino","year":"1991","journal-title":"J Med Genet"},{"key":"R15-20230915","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1002\/ajmg.a.20265","article-title":"Second reported patient with del(1)(p32.1p32.3) and similar clinical features suggesting a recognizable chromosomal syndrome","volume":"122A","author":"Zinner","year":"2003","journal-title":"Am J Med Genet"}],"container-title":["Clinical Dysmorphology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.lww.com\/00019605-201804000-00003","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T20:01:35Z","timestamp":1694808095000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.lww.com\/00019605-201804000-00003"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,4]]},"references-count":15,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2018]]}},"URL":"https:\/\/doi.org\/10.1097\/mcd.0000000000000209","relation":{},"ISSN":["0962-8827"],"issn-type":[{"value":"0962-8827","type":"print"}],"subject":[],"published":{"date-parts":[[2018,4]]}}}