{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T16:59:35Z","timestamp":1700153975427},"reference-count":13,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4450,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A newborn infant was referred because of low\u2010set ears, mild downward slant of the palpebral fissues, micrognathia with higharched palate, a flat midface, small mouth, and thin upper lip with cupid bow configuration. To some extent her cry resembled that associated with cri du chat syndrome.<\/jats:p><jats:p>Cytogenetic findings with G\u2010 and Q\u2010banding alone failed to characterize precisely the complex translocations. By the chromosome in situ suppression (CISS) hybridization technique using whole chromosome specific probes, a complex 4 breakpoint rearrangement involving both arms of a single chromosome 1 with the long arms of chromosome 5 and 11 was disclosed, i.e., 46,XX, der(1),t(1;5) t(1;11) (5qter\u21925q31::1p31.3\u21921q44::11q23\u219211qter;5pter\u21925q31::1p31.3\u21921pter;11pter\u219211q23::1q44\u21921qter). Gene deregulation and position effect may explain the multiple anomalies in individuals with apparently balanced translocations may shed some light towards unveiling the clinical consequences associated with aberrations which are presumably balanced. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320460118","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T00:56:24Z","timestamp":1118537784000},"page":"104-108","source":"Crossref","is-referenced-by-count":10,"title":["Molecular characterization of a complex translocation in a newborn infant"],"prefix":"10.1002","volume":"46","author":[{"given":"R. S.","family":"Verma","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. A.","family":"Conte","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. 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