{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T02:26:46Z","timestamp":1791512806031,"version":"4.3.4"},"reference-count":62,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2018,9,23]],"date-time":"2018-09-23T00:00:00Z","timestamp":1537660800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"CYTOGENETIC AND MOLECULAR STUDIES OF CHROMOSOME 22","award":["R01 CA039926"],"award-info":[{"award-number":["R01 CA039926"]}]},{"name":"GENETIC MODIFIERS FOR 22Q 11.2 DELETION SYNDROME","award":["R01 HL084410"],"award-info":[{"award-number":["R01 HL084410"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,10]]},"abstract":"<jats:p>\n                    22q11.2 deletion syndrome (DS) is the most frequent copy number variant (CNV) affecting ~1\/1,000 fetuses and ~1\/2,000\u20134,000 children, resulting in recognizable but variable findings across multiple organ systems. Patients with atypical features should prompt consideration of coexisting diagnoses due to additional genome\u2010wide mutations, CNVs, or mutations\/CNVs on the other allele, unmasking autosomal recessive conditions. Importantly, a dual diagnosis compounds symptoms and impacts management. We previously reported seven patients with 22q11.2DS and: SCID, Trisomy 8 mosaicism, Bernard\u2010Soulier, and CEDNIK syndromes. Here we present six additional unreported patients with 22q11.2DS and concurrent diagnoses. Records on 1,422 patients with 22q11.2DS, identified via FISH, microarray, or MLPA, followed in our 22q and You Center at the Children's Hospital of Philadelphia (CHOP) were reviewed to identify a dual diagnosis. In addition to our seven previously reported cases, we identified an additional six with 22q11.2DS and another coexisting condition identified via: molecular\/cytogenetic studies, newborn screening, coagulation factor studies, or enzyme testing; these include CHARGE syndrome (\n                    <jats:italic>CHD7<\/jats:italic>\n                    mutation), cystic fibrosis, a maternally inherited 17q12 deletion, G6PD deficiency, von Willebrand disease, and 1q21.1 deletion, resulting in an incidence of dual diagnoses at our center of 0.9%. The range of dual diagnoses identified in our cohort is notable, medically actionable, and may alter long\u2010term outcome and recurrence risk counseling. Thus, our findings may support testing patients with 22q11.2DS using a combination of microarray, mutational analysis of the other allele\/WES, to ensure appropriate personalized care, as formulating medical management decisions hinges on establishing the correct diagnoses in their entirety.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.40494","type":"journal-article","created":{"date-parts":[[2018,9,23]],"date-time":"2018-09-23T10:34:35Z","timestamp":1537698875000},"page":"2203-2214","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":38,"title":["22q and two: 22q11.2 deletion syndrome and coexisting conditions"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0385-1025","authenticated-orcid":false,"given":"Jennifer L.","family":"Cohen","sequence":"first","affiliation":[{"name":"The Children's Hospital of Philadelphia  Philadelphia Pennsylvania"},{"name":"Perelman School of Medicine at 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Pediatrics and Pediatric Neuropsychiatry \u201cSapienza\u201d University of Rome and Ospedale Bambino Gesu  Rome Italy"}],"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":"The Children's Hospital of Philadelphia  Philadelphia Pennsylvania"},{"name":"Perelman School of Medicine at the University of Pennsylvania  Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beverly S.","family":"Emanuel","sequence":"additional","affiliation":[{"name":"The Children's Hospital of Philadelphia  Philadelphia Pennsylvania"},{"name":"Perelman School of Medicine at the University of Pennsylvania  Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine H.","family":"Zackai","sequence":"additional","affiliation":[{"name":"The Children's Hospital of 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