{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T23:46:10Z","timestamp":1791071170605,"version":"4.1.0"},"reference-count":15,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2014,6,4]],"date-time":"2014-06-04T00:00:00Z","timestamp":1401840000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa de S\u00e3o Paulo (FAPESP)"},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"crossref","award":["NHGRI-1U54HG006542"],"award-info":[{"award-number":["NHGRI-1U54HG006542"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,9]]},"abstract":"<jats:sec><jats:label\/><jats:p>The chromosomal segment 6q24\u2010q25 comprises a contiguous gene microdeletion syndrome characterized by intrauterine growth retardation, growth delay, intellectual disability, cardiac anomalies, and a dysmorphic facial phenotype. We describe here a 10\u2010year follow\u2010up with detailed clinical, neuropsychological, and cytomolecular data of two siblings, male and female, who presented with developmental delay, microcephaly, short stature, characteristic facial dysmorphisms, multiple organ anomalies, and intellectual disability. Microarray analysis showed an 8.5\u2009Mb 6q24.2\u2010q25.2 interstitial deletion. Fluorescence in situ hybridization analyses confirmed the deletions and identified an insertion of 6q into 8q13 in their father, resulting in a high recurrence risk. This is the first report in sibs with distinct neuropsychological involvement, one of them with stenosis of the descending branch of the aorta. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36631","type":"journal-article","created":{"date-parts":[[2014,6,4]],"date-time":"2014-06-04T18:04:47Z","timestamp":1401905087000},"page":"2378-2384","source":"Crossref","is-referenced-by-count":5,"title":["Cytogenomic delineation and clinical follow\u2010up of two siblings with an 8.5\u2009Mb 6q24.2\u2010q25.2 deletion inherited from a paternal insertion"],"prefix":"10.1002","volume":"164","author":[{"given":"Vera Ayres","family":"Meloni","sequence":"first","affiliation":[{"name":"Genetics Division Department of Morphology and Genetics Universidade Federal de S\u00e3o Paulo S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta Santos","family":"Guilherme","sequence":"additional","affiliation":[{"name":"Genetics Division Department of Morphology and Genetics Universidade Federal de S\u00e3o Paulo S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariana Moyses","family":"Oliveira","sequence":"additional","affiliation":[{"name":"Genetics Division Department of Morphology and Genetics Universidade Federal de S\u00e3o Paulo S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michele","family":"Migliavacca","sequence":"additional","affiliation":[{"name":"Genetics Division Department of Morphology and Genetics Universidade Federal de S\u00e3o Paulo S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvia Satomi","family":"Takeno","sequence":"additional","affiliation":[{"name":"Genetics Division Department of Morphology and Genetics Universidade Federal de S\u00e3o Paulo S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nara Lygia Macena","family":"Sobreira","sequence":"additional","affiliation":[{"name":"McKusick Nathans Institute of Genetic Medicine Johns Hopkins University School of Medicine Baltimore Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"de Fatima Faria Soares","sequence":"additional","affiliation":[{"name":"Psychobiology Department Universidade Federal de S\u00e3o Paulo S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia Berlim","family":"de Mello","sequence":"additional","affiliation":[{"name":"Department of Imaging Diagnosis Universidade Federal de S\u00e3o Paulo S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Isabel","family":"Melaragno","sequence":"additional","affiliation":[{"name":"Genetics Division Department of Morphology and Genetics Universidade Federal de S\u00e3o Paulo S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,6,4]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31425"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2007.03.003"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.1382-04.2004"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970822)71:3<353::AID-AJMG18>3.0.CO;2-J"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320350115"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.220"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320400322"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32144"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.12.1031"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/5965"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19991105)87:1<17::AID-AJMG4>3.0.CO;2-G"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e32806e0931"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehl560"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.04.011"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi339"}],"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.36631","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36631","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,22]],"date-time":"2023-11-22T14:45:27Z","timestamp":1700664327000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36631"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,6,4]]},"references-count":15,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2014,9]]}},"alternative-id":["10.1002\/ajmg.a.36631"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36631","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,6,4]]}}}