{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,25]],"date-time":"2026-04-25T10:34:20Z","timestamp":1777113260847,"version":"3.51.4"},"reference-count":24,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2015,6,26]],"date-time":"2015-06-26T00:00:00Z","timestamp":1435276800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002708","name":"Agence Universitaire de la Francophonie","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002708","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,11]]},"abstract":"<jats:sec><jats:label\/><jats:p>Distal 10q deletion syndrome is a well\u2010characterized chromosomal disorder consisting of neurodevelopmental impairment, facial dysmorphism, cardiac malformations, genital and urinary tract defects, as well as digital anomalies. Patients with interstitial deletions involving band 10q26.1 present a phenotype similar to the ones with the distal 10q deletion syndrome, which led to the definition of a causal 600\u2009kb smallest region of overlap (SRO). In this report, we describe a male patient with an interstitial 4.5\u2009Mb deletion involving exclusively the 10q26.1 segment. He had growth and psychomotor retardation, microcephaly, flat feet, micropenis, and cryptorchidism. The patient's deleted region does not overlap the 10q SRO. We reviewed the clinical phenotype of patients with similar deletions and suggest the presence of two new SROs, one associated with microcephaly, growth and psychomotor retardation, and the other associated to genital anomalies. Interestingly, we narrowed those regions to segments encompassing five and two genes, respectively. <jats:italic>FGFR2<\/jats:italic>, <jats:italic>NSMCE4A<\/jats:italic>, and <jats:italic>ATE1<\/jats:italic> were suggested as candidates for facial dysmorphism, growth cessation, and heart defects, respectively. <jats:italic>WDR11<\/jats:italic> was linked to idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Its haploinsufficiency could play a crucial role in the genital anomalies of these patients. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37211","type":"journal-article","created":{"date-parts":[[2015,6,26]],"date-time":"2015-06-26T10:41:03Z","timestamp":1435315263000},"page":"2707-2713","source":"Crossref","is-referenced-by-count":18,"title":["10q26.1 Microdeletion: Redefining the critical regions for microcephaly and genital anomalies"],"prefix":"10.1002","volume":"167","author":[{"given":"Nancy","family":"Choucair","sequence":"first","affiliation":[{"name":"Unit\u00e9 de G\u00e9n\u00e9tique M\u00e9dicale et Laboratoire Associ\u00e9 INSERM \u00e0 l'Unit\u00e9 UMR_S 910 Facult\u00e9 de M\u00e9decine Universit\u00e9 Saint\u2010Joseph Beirut Lebanon"},{"name":"Facult\u00e9 de M\u00e9decine de la Timone Aix\u2010Marseille Universit\u00e9 Marseille France"},{"name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale UMR_S910 Marseille 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