{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T06:36:55Z","timestamp":1787726215311,"version":"build-2784847793"},"reference-count":22,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,12,19]],"date-time":"2013-12-19T00:00:00Z","timestamp":1387411200000},"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":[[2014,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>The increasing use of molecular tools in genetic diagnosis has produced a surge in the detection of genomic imbalances. Among the growing number of newly discovered chromosome alterations are the interstitial deletions 14q21\u2010q23. In previous reports of this deletion, the patients appear to share ocular defects, pituitary alterations and hand\/foot anomalies. Here, we present a 12\u2010year\u2010old girl with dysmorphic face, choanal atresia, gastroesophageal reflux, and moderate developmental delay, in whom an interstitial deletion 14q22.3\u2010q23.2 was detected using a 180k array comparative genome hybridization. The 6.5\u2009Mb deletion contains 27 genes, including three genes of the <jats:italic>SIX<\/jats:italic> family: <jats:italic>SIX1<\/jats:italic>, <jats:italic>SIX4<\/jats:italic>, and <jats:italic>SIX6<\/jats:italic>. In mammals, <jats:italic>Six1<\/jats:italic> has been shown to be involved in ocular differentiation, whereas <jats:italic>Six4<\/jats:italic> and <jats:italic>Six6<\/jats:italic> are primarily expressed in the hypothalamus, pituitary gland, and facial bones. We used data on mouse embryos to evaluate the expression of the <jats:italic>SIX<\/jats:italic> genes, as well as other representative genes lost in the current patient and a previously published case with a similar phenotype, in order to correlate their pattern of expression with the functional anomalies that constitute the patient's phenotype. We also explored the possibility of other genetic influences, such as the existence of an imprinted region in chromosome 14q, which may provide a better understanding of the observed clinical variability. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36330","type":"journal-article","created":{"date-parts":[[2013,12,19]],"date-time":"2013-12-19T20:15:01Z","timestamp":1387484101000},"page":"639-647","source":"Crossref","is-referenced-by-count":10,"title":["Interstitial deletion 14q22.3\u2010q23.2: Genotype\u2013phenotype correlation"],"prefix":"10.1002","volume":"164","author":[{"given":"Mar\u00eda Luisa","family":"Mart\u00ednez\u2010Fr\u00edas","sequence":"first","affiliation":[{"name":"Departamento de Farmacolog\u00eda Facultad de Medicina Universidad Complutense de Madrid Madrid Spain"},{"name":"Spanish Collaborative Study of Congenital Malformations (ECEMC) CIAC (Research Center on Congenital Anomalies) Instituto de Salud Carlos III Madrid Spain"},{"name":"CIBER de Enfermedades Raras (CIBERER) (U724) Instituto de Salud Carlos III Ministerio de Econom\u00eda y Competitividad Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Javier Gonzalo","family":"Ocejo\u2010Vinyals","sequence":"additional","affiliation":[{"name":"Servicio de Inmunolog\u00eda Hospital Universitario Marqu\u00e9s de Valdecilla Santander Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosa","family":"Arteaga","sequence":"additional","affiliation":[{"name":"Servicio de Neurolog\u00eda Hospital Universitario Marqu\u00e9s de Valdecilla Santander Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Luisa","family":"Mart\u00ednez\u2010Fern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Spanish Collaborative Study of Congenital Malformations (ECEMC) CIAC (Research Center on Congenital Anomalies) Instituto de Salud Carlos III Madrid Spain"},{"name":"CIBER de Enfermedades Raras (CIBERER) (U724) Instituto de Salud Carlos III Ministerio de Econom\u00eda y Competitividad Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"MacDonald","sequence":"additional","affiliation":[{"name":"Spanish Collaborative Study of Congenital Malformations (ECEMC) CIAC (Research Center on Congenital Anomalies) Instituto de Salud Carlos III Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"P\u00e9rez\u2010Belmonte","sequence":"additional","affiliation":[{"name":"Servicio de Pediatr\u00eda Hospital Universitario Marqu\u00e9s de Valdecilla Santander Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Bermejo\u2010S\u00e1nchez","sequence":"additional","affiliation":[{"name":"Spanish Collaborative Study of Congenital Malformations (ECEMC) CIAC (Research Center on Congenital Anomalies) Instituto de Salud Carlos III Madrid Spain"},{"name":"CIBER de Enfermedades Raras (CIBERER) (U724) Instituto de Salud Carlos III Ministerio de Econom\u00eda y Competitividad Madrid Spain"},{"name":"Instituto de Investigaci\u00f3n de Enfermedades Raras (IIER) Instituto de Salud Carlos III. Ministerio de Econom\u00eda y Competitividad Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salvador","family":"Mart\u00ednez","sequence":"additional","affiliation":[{"name":"Instituto de Neurociencias de Alicante CSIC\u2010UMH San Juan de Alicante Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,12,19]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10146"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.04-0641"},{"key":"e_1_2_6_4_1","unstructured":"Allen Brain Atlas.2013.Expression data.http:\/\/developingmouse.brain\u2010map.org\/(Accessed March 2013)."},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.09.023"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-13-63"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.4.280"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvg.20724"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.3.251"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1999.5916"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.10.821"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32519"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32408"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0925-4773(03)00065-0"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2012.04.023"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980501)77:2<162::AID-AJMG10>3.0.CO;2-L"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0925-4773(99)00017-9"},{"key":"e_1_2_6_18_1","first-page":"633","article-title":"Maternal uniparental disomy of chromosome 14 confined to an interstitial segment (14q23\u201014q24.2)","volume":"36","author":"Martin RA","year":"1999","journal-title":"J Med Genet"},{"key":"e_1_2_6_19_1","article-title":"Haploinsufficiency of BMP4 gene may be the underlying cause of Fr\u00edas syndrome","author":"Mart\u00ednez\u2010Fern\u00e1ndez ML","journal-title":"Am J Med Genet."},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31335"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-011-0968-y"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2011.08.010"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20000828)93:5<381::AID-AJMG7>3.0.CO;2-9"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36330","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36330","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T20:10:34Z","timestamp":1696623034000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36330"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,12,19]]},"references-count":22,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2014,3]]}},"alternative-id":["10.1002\/ajmg.a.36330"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36330","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,12,19]]}}}