{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T03:15:16Z","timestamp":1787022916571,"version":"build-2736575974"},"reference-count":32,"publisher":"American Academy of Pediatrics (AAP)","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[1997,5,1]]},"abstract":"<jats:p>Objective.\u2003Conotruncal cardiac anomalies frequently occur in patients with DiGeorge or velocardiofacial syndrome. Additionally, these patients may have overt or submucousal cleft palate, as well as velopharyngeal incompetence (VPI). Previous studies have demonstrated that the majority of these patients have a submicroscopic deletion of chromosome 22q11.2. We hypothesized that a subpopulation of newborns and children with congenital heart defects caused by a 22q11.2 deletion are at a high risk for having unrecognized palatal abnormalities. Therefore, we proposed to evaluate a cohort of patients with conotruncal cardiac malformations associated with a 22q11.2 deletion to determine the frequency of palatal abnormalities.<\/jats:p>\n                  <jats:p>Methods.\u2003We identified 14 deletion-positive patients with congenital cardiac defects who had no overt cleft palate. Of the 14 patients evaluated for the 22q11.2 deletion, 8 patients were recruited from a previous study looking for deletions among patients with isolated conotruncal cardiac anomalies. Informed consent was obtained in these cases. The remaining patients had the deletion study on a clinical basis, ie, conotruncal cardiac defect and an absent thymus, immunodeficiency, or minor dysmorphia appreciated by the clinical geneticist. These patients were evaluated by a plastic surgeon and speech pathologist looking for more subtle palatal anomalies such as a submucousal cleft palate, absence of the musculous uvuli, and VPI. Some patients underwent videofluoroscopy or nasendoscopy depending on their degree of symptoms and age. VPI was not ruled out until objective evaluation by a speech pathologist and plastic surgeon was obtained. In addition, the child had to be old enough to provide an adequate speech sample.<\/jats:p>\n                  <jats:p>Results.\u2003Of the 14 patients evaluated, 6 patients older than 1 year were found to have VPI. It is noteworthy that 3 of these patients were older than 5 years and had remained unrecognized until this study. The remaining 6 patients had inconclusive studies based on their age (younger than 26 months) and their inability to participate in adequate speech evaluations. Two of these patients, however, had histories of nasal regurgitation suggesting VPI and, in addition, had incomplete closure of the velopharyngeal mechanism during crying and swallowing observed during nasendoscopic examination\u2014consistent with the diagnosis of VPI. Thus, 8 of 14 patients evaluated had evidence of VPI by history and examination. The remaining 6 patients will require further study when they are older before a definitive palatal diagnosis can be made.<\/jats:p>\n                  <jats:p>Conclusions.\u2003A significant number of patients with a 22q11.2 deletion in a cardiac clinic may have unrecognized palatal problems. Recognition of such abnormalities will afford patients the opportunity for intervention as needed, ie, speech therapy and\/or surgical intervention. Notably, two of our patients with findings suggesting VPI were infants and will, therefore, be afforded the opportunity for close follow-up and early intervention. Furthermore, three school-aged children had palatal abnormalities that were unrecognized until this study. Thus, we recommend 22q11.2 deletion studies in patients with conotruncal cardiac malformations, followed by extensive palatal and speech evaluations when a deletion is present. chromosome 22q11.2 deletion, DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, Opitz G\/BBB syndrome, conotruncal cardiac anomalies, cleft palate, velopharyngeal incompetence.<\/jats:p>","DOI":"10.1542\/peds.99.5.e9","type":"journal-article","created":{"date-parts":[[2004,8,13]],"date-time":"2004-08-13T19:40:17Z","timestamp":1092426017000},"page":"e9-e9","source":"Crossref","is-referenced-by-count":25,"title":["Detection of a 22q11.2 Deletion in Cardiac Patients Suggests a Risk for Velopharyngeal Incompetence"],"prefix":"10.1542","volume":"99","author":[{"given":"Donna M.","family":"McDonald-McGinn","sequence":"first","affiliation":[{"name":"From the Divisions of Human Genetics and Molecular Biology,"},{"name":"Pediatrics,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah A.","family":"Driscoll","sequence":"additional","affiliation":[{"name":"From the Divisions of Human Genetics and Molecular Biology,"},{"name":"Obstetrics and Gynecology, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beverly S.","family":"Emanuel","sequence":"additional","affiliation":[{"name":"From the Divisions of Human Genetics and Molecular Biology,"},{"name":"Pediatrics,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Goldmuntz","sequence":"additional","affiliation":[{"name":"Pediatrics,"},{"name":"Cardiology, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"III","given":"Bernard J.","family":"Clark","sequence":"additional","affiliation":[{"name":"Pediatrics,"},{"name":"Cardiology, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cynthia","family":"Solot","sequence":"additional","affiliation":[{"name":"Plastic and Reconstructive Surgery, Children\u2019s Hospital of Philadelphia; and Departments of"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marilyn","family":"Cohen","sequence":"additional","affiliation":[{"name":"Plastic and Reconstructive Surgery, Children\u2019s Hospital of Philadelphia; and Departments of"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia","family":"Schultz","sequence":"additional","affiliation":[{"name":"Plastic and Reconstructive Surgery, Children\u2019s Hospital of Philadelphia; and Departments of"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donato","family":"LaRossa","sequence":"additional","affiliation":[{"name":"Plastic and Reconstructive Surgery, Children\u2019s Hospital of Philadelphia; and Departments of"},{"name":"Surgery, University of Pennsylvania School of Medicine, Philadelphia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Randall","sequence":"additional","affiliation":[{"name":"Plastic and Reconstructive Surgery, Children\u2019s Hospital of Philadelphia; and Departments of"},{"name":"Surgery, University of Pennsylvania School of Medicine, Philadelphia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine H.","family":"Zackai","sequence":"additional","affiliation":[{"name":"From the Divisions of Human Genetics and Molecular Biology,"},{"name":"Pediatrics,"},{"name":"Obstetrics and Gynecology, and"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"417","published-online":{"date-parts":[[1997,5,1]]},"reference":[{"key":"2021121009515666000_B1","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/0002-9149(86)90256-0","article-title":"Cardiovascular anomalies in DiGeorge syndrome and importance of neural crest as a possible pathogenetic factor.","volume":"58","author":"VanMierop","year":"1986","journal-title":"Am J Cardiol"},{"key":"2021121009515666000_B2","doi-asserted-by":"crossref","first-page":"907","DOI":"10.1016\/S0022-3476(65)81796-6","article-title":"Discussion on a new concept of the cellular basis of immunology.","volume":"67","author":"DiGeorge","year":"1965","journal-title":"J Pediatr"},{"key":"2021121009515666000_B3","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1016\/S0022-3476(79)80207-3","article-title":"The spectrum of DiGeorge syndrome.","volume":"94","author":"Conley","year":"1979","journal-title":"J Pediatr"},{"key":"2021121009515666000_B4","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1002\/ajmg.1320250615","article-title":"The DiGeorge anomaly as a developmental field defect.","volume":"29","author":"Lammer","year":"1986","journal-title":"Am J Med 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Genet"},{"key":"2021121009515666000_B12","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1007\/BF00282098","article-title":"DiGeorge syndrome and 22q11 rearrangements.","volume":"74","author":"Augussezu","year":"1986","journal-title":"Hum Genet."},{"key":"2021121009515666000_B13","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1111\/j.1399-0004.1986.tb01245.x","article-title":"Thymic deficiency in an infant with a chromosome t(18;22)t(q12.2\u219b1.2)pat arrangement.","volume":"29","author":"Bowen","year":"1986","journal-title":"Clin Genet."},{"key":"2021121009515666000_B14","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1002\/ajmg.1320380415","article-title":"DiGeorge sequence in an infant with deletion of chromosome 22 and dup(9p) due to adjacent type II disjunction.","volume":"38","author":"El-Fouly","year":"1991","journal-title":"Am J Med 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Genet"}],"container-title":["Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/99\/5\/e9\/1083985\/e9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/99\/5\/e9\/1083985\/e9.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,4,29]],"date-time":"2023-04-29T01:31:36Z","timestamp":1682731896000},"score":1,"resource":{"primary":{"URL":"https:\/\/publications.aap.org\/pediatrics\/article\/99\/5\/e9\/66360\/Detection-of-a-22q11-2-Deletion-in-Cardiac"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1997,5,1]]},"references-count":32,"journal-issue":{"issue":"5","published-online":{"date-parts":[[1997,5,1]]},"published-print":{"date-parts":[[1997,5,1]]}},"URL":"https:\/\/doi.org\/10.1542\/peds.99.5.e9","relation":{},"ISSN":["1098-4275","0031-4005"],"issn-type":[{"value":"1098-4275","type":"electronic"},{"value":"0031-4005","type":"print"}],"subject":[],"published":{"date-parts":[[1997,5,1]]}}}