{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T22:12:06Z","timestamp":1791151926153,"version":"4.1.0"},"reference-count":68,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":3857,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1994,11,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>A complex chromosome rearrangement (CCR) involving chromosomes 7, 8, and 13 was detected in a phenotypically normal woman ascertained through her mentally retarded son with abnormal phenotype. He had a karyotype with 47 chromosomes including an extra der(13). In initial banding studies the CCR in the mother was interpreted as a three\u2010way translocation. Fluorescence in situ hybridization with whole chromosome libraries and a telomerespecific probe was used to better characterize the rearrangement. Combined data allowed us to reinterpret the CCR as a translocation and an insertion. A review of 35 familial CCRs involving at least three chromosomes led to the following observations: 1) familial CCRs tend to have fewer chromosomes involved and fewer breakpoints than do de novo CCRs; 2) familial transmission is mainly observed through female carriers although the origin of de novo cases is paternal; 3) an apparent excess of balanced female carriers among the off\u2010spring of index carriers was noted; and 4) meiotic segregation resulting in malformed liveborn infants is most frequently due to adjacent\u20101 segregation, followed by 4:2 segregation; no adjacent\u20102 segregation was observed. \u00a9 1994 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320530311","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T13:45:53Z","timestamp":1118497553000},"page":"255-263","source":"Crossref","is-referenced-by-count":99,"title":["Molecular analysis of a complex chromosomal rearrangement and a review of familial cases"],"prefix":"10.1002","volume":"53","author":[{"given":"Denise A. 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