{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T05:50:37Z","timestamp":1790833837700,"version":"4.1.0"},"reference-count":18,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2011,4,11]],"date-time":"2011-04-11T00:00:00Z","timestamp":1302480000000},"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":[[2011,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a 23\u2010year\u2010old man with craniofacial findings of the holoprosencephaly spectrum disorder (microcephaly, hypotelorism, depressed nasal bridge, single median maxillary central incisor), fusion of C2\u2013C3 vertebrae, intellectual disability, and severe sleep apnea. Chromosome analysis of blood lymphocytes showed 75% ring (18) cells and 25% normal cells, karyotype mos 46,XY,r(18)(::p11\u2192q21::)[75]\/46,XY[25]. His mother was phenotypically normal except for a double ureter and bifid renal pelvis as in his son. She had a supernumerary ring (18) in 10% of blood lymphocytes, karyotype mos 47,XX,+r(18)(::p11\u2192q21::)[10]\/46,XX[90]. Familial ring (18) is a rare cytogenetic abnormality. This is the first report of a mother with a supernumerary ring (18) and a son with ring (18) mosaicism. Interestingly, the son showed a true mosaicism (mixoploidy) of ring (18) and normal cells. The mother's 46,XX cells could be easily explained by mitotic instability and ring loss during cell division. However, the coexistence of ring (18) and normal cells in the son is unusual. Possibly, during early postzygotic divisions of a 47,XY,+r(18) zygote, two (possibly subsequent) genetic events could have occurred, one when one normal chromosome 18 was lost (resulting in a cell line with ring 18), and one when the ring 18 was lost (resulting in a cell line without ring, \u201cescape to normal\u201d). Alternatively, the zygote of the son could have been 46,XY,r(18), and postzygotic loss of the ring 18 could have resulted in monosomy 18 cells followed by duplication of chromosome 18 in these cells (a rare mechanism for cell survival previously described as \u201ccompensatory\u201d isodisomy). \u00a9 2011 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33868","type":"journal-article","created":{"date-parts":[[2011,4,11]],"date-time":"2011-04-11T15:03:09Z","timestamp":1302534189000},"page":"1129-1135","source":"Crossref","is-referenced-by-count":7,"title":["Familial ring (18) mosaicism in a 23\u2010year\u2010old young adult with 46,XY,r(18) (::p11\u2192q21::)\/46,XY karyotype, intellectual disability, motor retardation and single maxillary incisor and in his phenotypically normal mother, karyotype 47,XX,+r(18)(::p11\u2192q21::)\/46,XX"],"prefix":"10.1002","volume":"155","author":[{"given":"Sevim","family":"Balci","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics, Ihsan Do\u011framac\u0131 Children's Hospital, Hacettepe University, Ankara, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Celal","family":"T\u00fcmer","sequence":"additional","affiliation":[{"name":"Department of Oral and Maxillofacial Surgery, Faculty of Dentistry, Hacettepe University, Ankara, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00c7i\u011fdem","family":"Karaca","sequence":"additional","affiliation":[{"name":"Department of Oral and Maxillofacial Surgery, Faculty of Dentistry, Hacettepe University, Ankara, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oliver","family":"Bartsch","sequence":"additional","affiliation":[{"name":"Institut f\u00fcr Humangenetik, Universit\u00e4tsmedizin der Johannes Gutenberg\u2013Universit\u00e4t Mainz, Mainz, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,4,11]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199304000-00013"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.31.7.534"},{"key":"e_1_2_6_4_1","first-page":"185","article-title":"Direct transmission of the 18q\u2010syndrome from mother to daughter","volume":"17","author":"Chen CP","year":"2006","journal-title":"Genet Couns"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961218)66:3<276::AID-AJMG8>3.0.CO;2-N"},{"key":"e_1_2_6_6_1","first-page":"121","article-title":"Transmission of ring chromosome 18 46, XX\/46,XX,r(18) mosaicism in a mother and ring chromosome 18 syndrome in her son","volume":"35","author":"Fryns JP","year":"1992","journal-title":"Ann 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