{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T23:43:23Z","timestamp":1788306203652,"version":"build-2803163510"},"reference-count":25,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2014,5,7]],"date-time":"2014-05-07T00:00:00Z","timestamp":1399420800000},"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":[[2014,7]]},"abstract":"<jats:sec><jats:label\/><jats:p>A 2 \u00bd\u2010year\u2010old girl with multiple congenital anomalies and a de novo 5.6\u2010Mb deletion on chromosome 13q12.11\u201313q12.13 is reported. She showed choanal atresia, scalp aplasia cutis, mild dysmorphic features, severe malformation of the hands and feet, Sylvian aqueductal stenosis, hydrocephalus, small cerebellum with pointed cerebellar tonsils, cervical, lumbar and sacral clefting, single central incisor and mild developmental delay. The girl's anomalies were compared with: (A) one boy reported by each of Der Kaloustian et al. [2011] and Tanteles et al. [2011] with similar, albeit smaller, 2.1 to 2.9\u2009Mb deletions in which the abnormalities consisted of mild facial dysmorphism, mild malformations of the fingers and\/or toes, and developmental delay; (B) one girl reported by Friedman et al. [2006] with similar, albeit larger, 5.7\u2009Mb deletion with mild developmental delay and haematological abnormalities; (C) one girl reported by Slee et al. [1991] with a deletion of band q12.2 in chromosome 13, who had Moebius syndrome with facial dysmorphism, high arched palate, micrognathia, and small tongue with no abnormalities of the extremities; and (D) seven additional individuals recorded in the DECIPHER 6.0 database who all had dysmorphic features and developmental delay plus a spectrum of clinical manifestations including deafness, ataxia\/oculomotor apraxia, spasticity, small testes, and mild fingers' anomalies. The deleted region hereby reported encompassed 34 known genes, including <jats:italic>GJA3<\/jats:italic>, <jats:italic>GJB2<\/jats:italic>, and <jats:italic>GJB6<\/jats:italic>, which are responsible for autosomal recessive deafness, <jats:italic>FGF9<\/jats:italic>, which plays crucial roles in embryonic neurological development, and <jats:italic>ATP8A2<\/jats:italic>, which causes a cerebellar ataxia and disequilibrium syndrome. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36391","type":"journal-article","created":{"date-parts":[[2014,5,7]],"date-time":"2014-05-07T18:29:08Z","timestamp":1399487348000},"page":"1734-1743","source":"Crossref","is-referenced-by-count":52,"title":["Wide spectrum of congenital anomalies including choanal atresia, malformed extremities, and brain and spinal malformations in a girl with a de novo 5.6\u2010Mb deletion of 13q12.11\u201313q12.13"],"prefix":"10.1002","volume":"164","author":[{"given":"Piero","family":"Pavone","sequence":"first","affiliation":[{"name":"Unit of Pediatrics and Pediatric Emergency University Hospital \u201cPoliclinico\u2010Vittorio Emanuele\u201d Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvana","family":"Briuglia","sequence":"additional","affiliation":[{"name":"Unit of Genetics and Immunology Department of Pediatrics University of Messina Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raffaele","family":"Falsaperla","sequence":"additional","affiliation":[{"name":"Unit of Pediatrics and Pediatric Emergency University Hospital \u201cPoliclinico\u2010Vittorio Emanuele\u201d Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amiel","family":"Warm","sequence":"additional","affiliation":[{"name":"Unit of Genetics and Immunology Department of Pediatrics University of Messina Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vito","family":"Pavone","sequence":"additional","affiliation":[{"name":"Institute of Orthopedics University Hospital \u201cPoliclinico\u2010Vittorio Emanuele\u201d Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Bernardini","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics \u201cCSS\u2010Mendel\u201d Institute Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Novelli","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics \u201cCSS\u2010Mendel\u201d Institute Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea D.","family":"Pratic\u00f2","sequence":"additional","affiliation":[{"name":"Unit of Pediatrics and Pediatric Emergency University Hospital \u201cPoliclinico\u2010Vittorio Emanuele\u201d Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincenzo","family":"Salpietro","sequence":"additional","affiliation":[{"name":"Unit of Genetics and Immunology Department of Pediatrics University of Messina Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martino","family":"Ruggieri","sequence":"additional","affiliation":[{"name":"Department of Educational Sciences Chair of Pediatrics University of Catania Catania Italy"},{"name":"Institute of Neurosurgery Department of Neurosciences University of Catania Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,5,7]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.3748\/wjg.v17.i37.4247"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.8.559"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32938"},{"key":"e_1_2_7_5_1","unstructured":"BergsmaD.1979. 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