{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T09:10:11Z","timestamp":1698225011764},"reference-count":31,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":4324,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We have further characterized an unusual 22p+ marker chromosome with a double nucleolus organizer region (dNOR) previously identified in a family with late\u2010onset dementia of the Alzheimer type.<\/jats:p><jats:p>G\u2010banding and morphology of the marker's q arm were typically normal. However, the p+ arm had a terminal cytological satellite and a GT\u2010positive region at the midpoint. Standard C\u2010banding documented 2 C\u2010positive regions: one was associated with the primary centromere; the other, which was at the midpoint of the p arm, was not associated with a constriction. With replication\u2010banding, there was a darkly staining region in the middle of the p+arm that resembled the pericentromeric region of a chromosome 21 or 22. Fluorescence in situ hybridization with pXlr 101, a probe recognizing the full repeating unit of rDNA, indicated that the marker had an unusually large rDNA region; with pU 1.2, a probe recognizing the human rDNA promoter, the signal was a doublet. The marker had 2 signals with a \u03b2\u2010satellite probe, and a second signal in addition to that present at the primary centromere under low stringency with \u03b1\u2010satellite probes and a classic satellite probe. Immunostaining of chromosome spreads after R\u2010banding and ultraviolet (UV) denaturation showed that the major portion of the marker's p arm was highly methylated. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320470104","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:05:55Z","timestamp":1118509555000},"page":"14-19","source":"Crossref","is-referenced-by-count":1,"title":["Family with 22\u2010derived marker chromosome and late\u2010onset dementia of the Alzheimer type: II. Further cytogenetic analysis of the marker and characterization of the high\u2010level repeat sequences using fluorescence in situ hybridization"],"prefix":"10.1002","volume":"47","author":[{"given":"Maire E.","family":"Percy","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas G.","family":"Dearie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ethylin Wang","family":"Jabs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sharon J.","family":"Bauer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara","family":"Chodakowski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin J.","family":"Somerville","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne","family":"Lennox","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Donald R. C.","family":"McLachlan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Baldini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dorothy A.","family":"Miller","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02619631"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(78)90199-X"},{"key":"e_1_2_1_4_1","first-page":"57","volume-title":"Human Cytogenetics. 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