{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,1,29]],"date-time":"2024-01-29T06:08:07Z","timestamp":1706508487995},"reference-count":45,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,8,19]],"date-time":"2005-08-19T00:00:00Z","timestamp":1124409600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2005,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The DiGeorge anomaly (DGA) is an etiologically heterogeneous developmental field defect in which cardiovascular malformations, hypocalcemia, thymic hypoplasia, and characteristic dysmorphisms are major clinical features. The 22q11.2 deletion is the most common single etiology of DGA, although a number of other chromosomal abnormalities and teratogens, including maternal diabetes, have been implicated as well. We present a patient, born to a diabetic mother, with interrupted aortic arch type B (IAA\u2010B), neonatal hypocalcemia, thymic hypoplasia, and dysmorphic features including microcephaly, thick, overfolded helices, and anteriorly\u2010placed anus. Cytogenetic studies showed the presence of a marker chromosome, identified by fluorescence in\u2010situ hybridization (FISH) as an isochromosome 18p [i(18p)]. We did not detect a 22q11.2 deletion by FISH using a cosmid probe corresponding to locus D22S75. The patient is the first example of either DGA or IAA\u2010B in a patient with i(18p). We review the genetic abnormalities associated with DGA, and discuss the potential contributions of maternal diabetes and i(18p) in our patient. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30913","type":"journal-article","created":{"date-parts":[[2005,8,19]],"date-time":"2005-08-19T23:16:56Z","timestamp":1124493416000},"page":"155-159","source":"Crossref","is-referenced-by-count":5,"title":["DiGeorge anomaly in a patient with isochromosome 18p born to a diabetic mother"],"prefix":"10.1002","volume":"138A","author":[{"given":"Ralph J.","family":"DeBerardinis","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Livija","family":"Medne","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nancy B.","family":"Spinner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elaine 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