{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T20:07:40Z","timestamp":1787170060503,"version":"build-2736575974"},"reference-count":11,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2011,11,3]],"date-time":"2011-11-03T00:00:00Z","timestamp":1320278400000},"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":[[2011,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    We describe a female newborn with a de novo 3.54 megabase (Mb) deletion of 17q22\u2010q23.1 (chr17:53,072,536\u201356,612,662, hg18) including genes from\n                    <jats:italic>MSI2<\/jats:italic>\n                    to\n                    <jats:italic>BCAS3<\/jats:italic>\n                    detected by oligonucleotide array comparative genomic hybridization (aCGH). Prenatal ultrasound examination noted oligohydramnios and ventriculomegaly in the fetus. Postnatal examination found hypotonia, macrocephaly, arachnodactyly of fingers and toes, dysmorphic features, bilateral hearing loss and heart defect. Review of reported cases with genomic findings noted one case with proximal deletion involving the\n                    <jats:italic>NOG<\/jats:italic>\n                    gene and a case series with distal recurrent microdeletions involving the\n                    <jats:italic>TBX2<\/jats:italic>\n                    and\n                    <jats:italic>TBX4<\/jats:italic>\n                    genes. Our case presented a unique deletion partially overlapped with the above deletions but not including the\n                    <jats:italic>NOG<\/jats:italic>\n                    ,\n                    <jats:italic>TBX2<\/jats:italic>\n                    , and\n                    <jats:italic>TBX4<\/jats:italic>\n                    genes. A genomic map for deletions in this 17q22\u2010q23.1 region was constructed to further define the common deletion intervals for potential haplo\u2010insufficient genes. \u00a9 2011 Wiley Periodicals, Inc.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.34307","type":"journal-article","created":{"date-parts":[[2011,11,3]],"date-time":"2011-11-03T17:10:42Z","timestamp":1320340242000},"page":"3082-3086","source":"Crossref","is-referenced-by-count":19,"title":["A de novo 3.54\u2009Mb deletion of 17q22\u2010q23.1 associated with hydrocephalus: A case report and review of literature"],"prefix":"10.1002","volume":"155","author":[{"given":"Mona","family":"Khattab","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fang","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peining","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vineet","family":"Bhandari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,11,3]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.01.038"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/342067"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.03.010"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2008.211"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.9.701"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33827"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2008.09.006"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0959-437X(02)00304-0"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.072942"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32411"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.2353\/jmoldx.2010.090115"}],"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.34307","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.34307","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T10:13:56Z","timestamp":1697624036000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.34307"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,11,3]]},"references-count":11,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2011,12]]}},"alternative-id":["10.1002\/ajmg.a.34307"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.34307","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,11,3]]}}}