{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,10]],"date-time":"2026-07-10T15:50:43Z","timestamp":1783698643004,"version":"3.55.0"},"reference-count":17,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2012,2,2]],"date-time":"2012-02-02T00:00:00Z","timestamp":1328140800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2012,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The deletion of the long arm of chromosome 18 causes a contiguous gene deletion syndrome with a highly variable phenotype, usually related to the extent of the deleted region. The most commonly reported clinical features include: decreased growth, microcephaly, facial abnormalities, hypotonia, developmental delay, intellectual disability, congenital aural atresia with hearing impairment and limb anomalies. Here we report on a familial terminal deletion of 18q23 region transmitted from a mother to two daughters, resulting in a remarkable phenotypic variability. The deletion was first detected by conventional cytogenetic analysis in one daughter and subsequently characterized using fluorescence in situ hybridization (FISH) and array\u2010CGH. FISH analysis using subtelomeric 18p and 18q probes confirmed the 18qter deletion in the three patients, and FISH with a whole chromosome painting probe specific for chromosome 18 excluded rearrangements with other chromosomes. Array\u2010CGH analysis allowed us to precisely define the extent of the deletion, which spans 4.8\u2009Mb from 71,236,891 to 76,093,303 genomic positions and includes <jats:italic>GALR1<\/jats:italic> and <jats:italic>MBP<\/jats:italic> genes, among others. High\u2010resolution analysis of the deletion, besides a detailed clinical assessment, has provided important data for phenotype\u2013genotype correlation and genetic counseling in this family. Furthermore, this study adds valuable information for phenotype\u2013genotype correlation in 18q\u2010 syndrome and might facilitate future search for candidate genes involved in each phenotypic trait. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.34221","type":"journal-article","created":{"date-parts":[[2012,2,2]],"date-time":"2012-02-02T19:39:32Z","timestamp":1328211572000},"page":"611-616","source":"Crossref","is-referenced-by-count":13,"title":["Familial 4.8\u2009MB deletion on 18q23 associated with growth hormone insufficiency and phenotypic variability"],"prefix":"10.1002","volume":"158A","author":[{"given":"Ester","family":"Margarit","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carme","family":"Morales","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laia","family":"Rodr\u00edguez\u2010Revenga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raquel","family":"Monn\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e8lia","family":"Badenas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Soler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N\u00faria","family":"Clusellas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene","family":"Mademont","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aurora","family":"S\u00e1nchez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,2,2]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"552","article-title":"Estudio 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