{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,19]],"date-time":"2023-10-19T06:10:03Z","timestamp":1697695803824},"reference-count":16,"publisher":"Wiley","issue":"15","license":[{"start":{"date-parts":[[2006,7,7]],"date-time":"2006-07-07T00:00:00Z","timestamp":1152230400000},"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":[[2006,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Although supernumerary marker chromosomes derived from chromosome 15 (SMC(15)) are the most common marker chromosome in humans, ring SMC(15)s are rare. Here we report on a 16\u2010month\u2010old patient who has a ring SMC(15) with two copies of the segment 15p11.1\u2013q14 region. She exhibits hypotonia, developmental delay, speech delay, microstomia, micrognathia, and other mild dysmorphic features. The ring was present in 22% of her peripheral blood lymphocyte cells. FISH study revealed that the ring was derived from chromosome 15, and had neither telomere sequence nor satellite III paracentromeric DNA. It had alpha satellite DNA, and two copies of the segment 15q11.2 to CTD 2125J1 (at 15q14, 2.2 Mbp telomeric of the common breakpoint 5). The ring\u2010containing cells had four copies of 15p11.1\u2013q14. The ring can be described as r(15)(::p11.1\u2009\u2192\u2009q14::q14\u2009\u2192\u2009p11.1::). Southern\u2010blot analysis of the methylation pattern in the PW\/AS critical region showed biparental inheritance, and the ring was maternally derived. This patient's phenotype was comparable to ring SMC(15) patients with three copies of the Prader\u2013Willi\/Angelman syndrome (PWS\/AS) critical region. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31339","type":"journal-article","created":{"date-parts":[[2006,7,7]],"date-time":"2006-07-07T21:16:34Z","timestamp":1152306994000},"page":"1663-1668","source":"Crossref","is-referenced-by-count":3,"title":["A case of mosaic supernumerary ring chromosome 15 with two copies of the segment 15p11.1\u2013q14"],"prefix":"10.1002","volume":"140A","author":[{"given":"Ying S.","family":"Zou","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pamela S.","family":"McGrann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Timothy S.","family":"Uphoff","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel L.","family":"Van Dyke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,7,7]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10095"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1516"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00209395"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201311"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00220089"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2002.620113.x"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20105"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20182"},{"key":"e_1_2_6_10_1","first-page":"748","article-title":"Molecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader\u2013Willi\/Angelman syndrome region: Clinical implications","volume":"54","author":"Leana\u2010Cox J","year":"1994","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1159\/000079572"},{"key":"e_1_2_6_12_1","first-page":"879","article-title":"The tyrosinase\u2010positive oculocutaneous albinism locus maps to chromosome 15q11.2\u2010q12","volume":"51","author":"Ramsay M","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970711)71:1<57::AID-AJMG11>3.0.CO;2-U"},{"key":"e_1_2_6_14_1","first-page":"294","article-title":"The origin and behavior of two isodicentric bisatellited chromosomes","volume":"29","author":"Van Dyke D","year":"1977","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1987.tb03328.x"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1086\/422854"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20621"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.31339","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31339","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T23:03:50Z","timestamp":1697670230000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31339"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,7,7]]},"references-count":16,"journal-issue":{"issue":"15","published-print":{"date-parts":[[2006,8]]}},"alternative-id":["10.1002\/ajmg.a.31339"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31339","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,7,7]]}}}