{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T19:10:39Z","timestamp":1780600239094,"version":"3.54.1"},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,9,16]],"date-time":"2022-09-16T00:00:00Z","timestamp":1663286400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Prior studies have demonstrated that patients with chromosome 22q11.2 deletion syndrome (22q11.2DS) have lower platelet counts (PC) compared to non\u2010deleted populations. They also have an increased mean platelet volume. The mechanism for this has been postulated to be haploinsufficiency of the\n                    <jats:italic>GPIBB<\/jats:italic>\n                    gene. We examined platelet parameters, deletion size and factors known to influence counts, including status of thyroid hormone and congenital heart disease (CHD), in a population of 825 patients with 22q11.2DS. We also measured surface expression of GPIB\u2010IX complex by flow cytometry. The major determinant of PC was deletion status of\n                    <jats:italic>GP1BB<\/jats:italic>\n                    , regardless of surface expression or other factors. Patients with nested distal chromosome 22q11.2 deletions (those with\n                    <jats:italic>GP1BB<\/jats:italic>\n                    present) had higher PCs than those with proximal deletions where\n                    <jats:italic>GP1BB<\/jats:italic>\n                    is deleted. Patients with 22q11.2DS also demonstrated an accelerated PC decrease with age, occurring in childhood. These data demonstrate that genes within the proximal deletion segment drive PC differences in 22q11.2DS and suggest that PC reference ranges may need to be adjusted for age and deletion size in 22q11.2DS populations. Bleeding did not correlate with either platelet count or GPIb expression. Further studies into drivers of expression of GPIb and associations with severe thrombocytopenia and immune thrombocytopenia are needed to inform clinical care.\n                  <\/jats:p>","DOI":"10.1111\/cge.14227","type":"journal-article","created":{"date-parts":[[2022,9,8]],"date-time":"2022-09-08T22:09:01Z","timestamp":1662674941000},"page":"109-113","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Platelet findings in 22q11.2 deletion syndrome correlate with disease manifestations but do not correlate with\n                    <scp>GPIb<\/scp>\n                    surface expression"],"prefix":"10.1111","volume":"103","author":[{"given":"Ian M.","family":"Campbell","sequence":"first","affiliation":[{"name":"Division of Human Genetics and 22q and You Center Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Department of Biomedical and Health Informatics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T. Blaine","family":"Crowley","sequence":"additional","affiliation":[{"name":"Division of Human Genetics and 22q and You Center Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chintan","family":"Jobaliya","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice","family":"Bailey","sequence":"additional","affiliation":[{"name":"Division of Human Genetics and 22q and You Center Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel E.","family":"McGinn","sequence":"additional","affiliation":[{"name":"Division of Human Genetics and 22q and You Center Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimberly","family":"Gaiser","sequence":"additional","affiliation":[{"name":"Division of Human Genetics and 22q and You Center Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Bassett","sequence":"additional","affiliation":[{"name":"Department of Psychiatry University of Toronto  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raquel E.","family":"Gur","sequence":"additional","affiliation":[{"name":"Department of Psychiatry Perelman School of Medicine at the University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernice","family":"Morrow","sequence":"additional","affiliation":[{"name":"Department of Medicine Albert Einstein College of Medicine  Bronx New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beverly S.","family":"Emanuel","sequence":"additional","affiliation":[{"name":"Division of Human Genetics and 22q and You Center Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aime T.","family":"Franco","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Perelman School of Medicine at the University of Pennsylvania  Philadelphia Pennsylvania USA"},{"name":"Division of Endocrinology Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah","family":"French","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine H.","family":"Zackai","sequence":"additional","affiliation":[{"name":"Division of Human Genetics and 22q and You Center Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Department of Pediatrics Perelman School of Medicine at the University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donna M.","family":"McDonald\u2010McGinn","sequence":"additional","affiliation":[{"name":"Division of Human Genetics and 22q and You Center Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Department of Pediatrics Perelman School of Medicine at the University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0439-402X","authenticated-orcid":false,"given":"Michele P.","family":"Lambert","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Perelman School of Medicine at the University of Pennsylvania  Philadelphia Pennsylvania USA"},{"name":"Division of Hematology Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,9,16]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/302343"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40637"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrdp.2015.71"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V94.12.4112"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.4.763"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1067\/S0022-3476(03)00248-8"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2014.01.056"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1080\/0880010390158685"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2021.06.007"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1080\/09537104.2017.1411584"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2010.02.027"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/hrt.2007.122671"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/pr.2015.216"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/jth.14357"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2002.128547"}],"container-title":["Clinical 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