{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T19:17:43Z","timestamp":1787771863753,"version":"build-2784847793"},"reference-count":16,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2016]]},"abstract":"<jats:sec>\n                    <jats:title\/>\n                    <jats:p>\n                      Our patient presented with congenital heart disease (CHD: Tetralogy of Fallot), hypocalcemia, hypoparathyroidism, and facial dysmorphisms. Suspecting DiGeorge syndrome (DGS), a fluorescence\n                      <jats:italic toggle=\"yes\">in situ<\/jats:italic>\n                      hybridization (FISH) analysis for 22q11.2 deletion was made. The child had a hemizygous deletion in the 22q11.2 region, diagnostic of DGS. Unfortunately, the patient succumbed to the heart disease. DGS is the most common microdeletion syndrome, and probably underrecognized due to the varied manifestations. This case stresses the importance of a detailed physical examination and a high index of suspicion for diagnosing this genetic condition. Timely diagnosis can help manage and monitor these patients better and also offer prenatal diagnosis in the next pregnancy.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/0022-3859.167730","type":"journal-article","created":{"date-parts":[[2015,10,20]],"date-time":"2015-10-20T05:32:55Z","timestamp":1445319175000},"page":"118-123","source":"Crossref","is-referenced-by-count":3,"title":["\"FISHed\" out the diagnosis"],"prefix":"10.4103","volume":"62","author":[{"given":"S","family":"Bajaj","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"TS","family":"Thombare","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"MS","family":"Tullu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Agrawal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R3-12-20240205","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1002\/ddrr.2","article-title":"Velo-cardio-facial syndrome: 30 years of study","volume":"14","author":"Shprintzen","year":"2008","journal-title":"Dev Disabil Res Rev"},{"key":"R4-12-20240205","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1016\/j.jpeds.2011.02.039","article-title":"Practical guidelines for managing patients with 22q11.2 deletion syndrome","volume":"159","author":"Bassett","year":"2011","journal-title":"J Pediatr"},{"key":"R6-12-20240205","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1002\/ajmg.1320440237","article-title":"Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome","volume":"44","author":"Driscoll","year":"1992","journal-title":"Am J Med Genet"},{"key":"R7-12-20240205","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1542\/peds.67.2.167","article-title":"The velo-cardio-facial syndrome: A clinical and genetic analysis","volume":"67","author":"Shprintzen","year":"1981","journal-title":"Pediatrics"},{"key":"R8-12-20240205","doi-asserted-by":"crossref","first-page":"1475","DOI":"10.1016\/j.jpeds.2014.01.056","article-title":"Italian Network for Primary Immunodeficiencies. 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