{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T16:56:51Z","timestamp":1761843411481},"reference-count":36,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4359,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Experimental studies have demonstrated that the DiGeorge anomaly is due to cranial neural crest abnormalities. In the present study, the quantitation of thyrocalcitonin immunoreactive cells (C\u2010cells) has been used to evaluate whether cells derived from the cranial neural crest are or are not present in normal proportions in patients with this anomaly. Thyroid sections from 11 such patients and 11 control patients were studied imnmunohistochemically at autopsy in order to determine the number and distribution of thyrocalcitonin containing cells. Patients with DiGeorge anomaly showed thymic and parathyroid aplasia\/hypoplasia and cardiovascular defects, such as type B interrupted aortic arch, truncus arteriosus and tetralogy of Fallot. Other associated defects were alobar holoprosencephaly and meningocels (previously unreported defects in this anomaly), arhinencephaly, renal cystic dysplasia, ureterohydronephrosis, esophageal atresia with tracheoesophageal fistula, and cleft lip and palate. The volume density of C\u2010cells (1.187%) and the mean number of C\u2010cells per follicle (1.42) was significantly lower in patients with DiGeorge anomaly than in control patients (3.475% and 2.367, respectively). These results indicate a decrease in cells derived from the neural crest in patients with DiGeorge anomaly, and support the hypothesis of a neural crest disturbance as the pathogenetic factor responsible for this anomaly. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320460608","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:59:55Z","timestamp":1118509195000},"page":"641-646","source":"Crossref","is-referenced-by-count":30,"title":["Decrease in thyrocalcitonin\u2010containing cells and analysis of other congenital anomalies in 11 patients with DiGeorge anamaly"],"prefix":"10.1002","volume":"46","author":[{"given":"Jos\u00e9","family":"Palacios","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlos","family":"Gamallo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcial","family":"Garc\u00eda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9 Ignacio","family":"Rodr\u00edguez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"1","article-title":"Clinical and immunologic spectrum of the DiGeorge syndrome","volume":"6","author":"Barret DJ","year":"1981","journal-title":"J Clin Lab Immunol"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.6606851"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0046-8177(87)80165-X"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(82)80349-1"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420400304"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(79)80207-3"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(65)81796-6"},{"key":"e_1_2_1_9_1","first-page":"312","article-title":"Lymphoid tissue and associated congenital malformations in thymic agenesis","volume":"86","author":"Dische MR","year":"1968","journal-title":"Arch Pathol"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320460210"},{"key":"e_1_2_1_11_1","first-page":"99","article-title":"Isoretinoin teratogenicity in mouse whole embryo culture","volume":"6","author":"Gouldings EH","year":"1986","journal-title":"J. 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