{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T10:04:35Z","timestamp":1789207475905,"version":"build-2803163510"},"reference-count":27,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2013,11,15]],"date-time":"2013-11-15T00:00:00Z","timestamp":1384473600000},"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":[[2014,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>A syndrome associated with 19q13.11 microdeletions has been proposed based on seven previous cases that displayed developmental delay, intellectual disability, speech disturbances, pre\u2010 and post\u2010natal growth retardation, microcephaly, ectodermal dysplasia, and genital malformations in males. A 324\u2010kb critical region was previously identified as the smallest region of overlap (SRO) for this syndrome. To further characterize this microdeletion syndrome, we present five patients with deletions within 19q12q13.12 identified using a whole\u2010genome oligonucleotide microarray. Patients 1 and 2 possess deletions overlapping the SRO, and Patients 3\u20135 have deletions proximal to the SRO. Patients 1 and 2 share significant phenotypic overlap with previously reported cases, providing further definition of the 19q13.11 microdeletion syndrome phenotype, including the first presentation of ectrodactyly in the syndrome. Patients 3\u20135, whose features include developmental delay, growth retardation, and feeding problems, support the presence of dosage\u2010sensitive genes outside the SRO that may contribute to the abnormal phenotypes observed in this syndrome. Multiple genotype\u2013phenotype correlations outside the SRO are explored, including further validation of the deletion of <jats:italic>WTIP<\/jats:italic> as a candidate for male hypospadias observed in this syndrome. We postulate that unique patient\u2010specific deletions within 19q12q13.1 may explain the phenotypic variability observed in this emerging contiguous gene deletion syndrome. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36201","type":"journal-article","created":{"date-parts":[[2013,11,15]],"date-time":"2013-11-15T22:15:16Z","timestamp":1384553716000},"page":"62-69","source":"Crossref","is-referenced-by-count":26,"title":["Phenotypic and molecular characterization of 19q12q13.1 deletions: A report of five patients"],"prefix":"10.1002","volume":"164","author":[{"given":"Shimul","family":"Chowdhury","sequence":"first","affiliation":[{"name":"Providence Sacred Heart Medical Center Molecular Diagnostics Spokane Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne M.","family":"Bandholz","sequence":"additional","affiliation":[{"name":"Signature Genomic Laboratories PerkinElmer, Inc. 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