{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,21]],"date-time":"2026-02-21T09:56:02Z","timestamp":1771667762232,"version":"3.50.1"},"reference-count":23,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2014,9,24]],"date-time":"2014-09-24T00:00:00Z","timestamp":1411516800000},"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":[[2014,12]]},"abstract":"<jats:sec><jats:label\/><jats:p>Chromosome 10q deletions are rare and phenotypically diverse. Such deletions differ in length and occur in numerous regions on the long arm of chromosome 10, accounting for the wide clinical variability. Commonly reported findings include dysmorphic facial features, microcephaly, developmental delay, and genitourinary abnormalities. Here, we report on a female patient with a novel interstitial 5.54\u2009Mb deletion at 10q24.31\u2013q25.1. This patient had findings in common with a previously reported patient with an overlapping deletion, including renal anomalies and an orofacial cleft, but also demonstrated lobar holoprosencephaly and a Dandy\u2010Walker malformation, features which have not been previously reported with 10q deletions. An analysis of the region deleted in our patient showed numerous genes, such as <jats:italic>KAZALD1, PAX2, SEMA4G, ACTRA1, INA<\/jats:italic>, and <jats:italic>FGF8<\/jats:italic>, whose putative functions may have played a role in the phenotype seen in our patient. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36740","type":"journal-article","created":{"date-parts":[[2014,9,24]],"date-time":"2014-09-24T17:15:28Z","timestamp":1411578928000},"page":"3132-3136","source":"Crossref","is-referenced-by-count":16,"title":["Novel interstitial deletion of 10q24.3\u201325.1 associated with multiple congenital anomalies including lobar holoprosencephaly, cleft lip and palate, and hypoplastic kidneys"],"prefix":"10.1002","volume":"164","author":[{"given":"Iskra T.","family":"Peltekova","sequence":"first","affiliation":[{"name":"Department of Developmental Pediatrics Montr\u00e9al Children's Hospital Montreal Qu\u00e9bec"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julie","family":"Hurteau\u2010Millar","sequence":"additional","affiliation":[{"name":"Division of Radiology Children's Hospital of Eastern Ontario Ottawa Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine M.","family":"Armour","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics Children's Hospital of Eastern Ontario Ottawa Ontario 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