{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T00:31:51Z","timestamp":1776817911482,"version":"3.51.2"},"reference-count":41,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2016,10,14]],"date-time":"2016-10-14T00:00:00Z","timestamp":1476403200000},"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":[[2017,1]]},"abstract":"<jats:sec><jats:label\/><jats:p>Small supernumerary marker chromosomes (sSMC) are abnormal chromosomes that cannot be characterized by standard banding cytogenetic techniques. A minority of sSMC contain a neocentromere, which is an ectopic centromere lacking the characteristic alpha\u2010satellite DNA. The phenotypic manifestations of sSMC and neocentromeric sSMC are variable and range from severe intellectual disability and multiple congenital anomalies to a normal phenotype. Here we report a patient with a diagnosis of Marfan syndrome and infertility found to have an abnormal karyotype consisting of a chromosome 15 deletion and a ring\u2010type sSMC likely stabilized by a neocentromere derived via a mechanism initially described by Barbara McClintock in 1938. Analysis of the sSMC identified that it contained the deleted chromosome 15 material and also one copy of <jats:italic>FBN1<\/jats:italic>, the gene responsible for Marfan syndrome. We propose that the patient's diagnosis arose from disruption of the <jats:italic>FBN1<\/jats:italic> allele on the sSMC. To date, a total of 29 patients have been reported with an sSMC derived from a chromosomal deletion. We review these cases with a specific focus on the resultant phenotypes and note significant difference between this class of sSMC and other types of sSMC. Through this review we also identified a patient with a clinical diagnosis of neurofibromatosis type 1 who lacked a family history of the condition but was found to have a chromosome 17\u2010derived sSMC that likely contained <jats:italic>NF1<\/jats:italic> and caused the patient's disorder. We also review the genetic counseling implications and recommendations for a patient or family harboring an sSMC. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38000","type":"journal-article","created":{"date-parts":[[2016,10,14]],"date-time":"2016-10-14T06:31:23Z","timestamp":1476426683000},"page":"268-273","source":"Crossref","is-referenced-by-count":6,"title":["A Marfan syndrome\u2010like phenotype caused by a neocentromeric supernumerary ring chromosome 15"],"prefix":"10.1002","volume":"173","author":[{"given":"Shane C.","family":"Quinonez","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Communicable Diseases University of Michigan Medical School Ann Arbor Michigan"},{"name":"Department of Internal Medicine University of Michigan Ann Arbor Michigan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas D.","family":"Gelehrter","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine University of Michigan Ann Arbor Michigan"},{"name":"Department of Human Genetics University of Michigan Ann Arbor Michigan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wendy R.","family":"Uhlmann","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine University of Michigan Ann Arbor Michigan"},{"name":"Department of Human Genetics University of Michigan Ann Arbor Michigan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,10,14]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30527"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1159\/000132931"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.10.013"},{"key":"e_1_2_5_5_1","unstructured":"BurnsideRD IbrahimJ FloraC SchwartzS TepperbergJH PapenhausenPR.2009Interstitial Deletion of 8q in a girl from Unbalanced Segregation of a Paternal Deletion\/ring Karyotype. ASHG abstract."},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30362"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.2164\/jandrol.109.009738"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/352337a0"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1993.1349"},{"key":"e_1_2_5_10_1","first-page":"A78","article-title":"Interstitial deletion of chromosome 12p in a patient caused by maternal ring formation","volume":"51","author":"Donlon TA","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2002.620113.x"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI117737"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1086\/520125"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440109"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-199907000-00008"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI200420641"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.559"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.24.5.308"},{"key":"e_1_2_5_19_1","first-page":"477","article-title":"Small supernumerary marker chromosome derived from proximal p\u2010arm of chromosome 2: Identification by fluorescent in situ hybridization","volume":"44","author":"Lasan Trcic R","year":"2003","journal-title":"Croat Med J"},{"key":"e_1_2_5_20_1","author":"Liehr T.","year":"2016","journal-title":"Small supernumerary marker chromosomes"},{"key":"e_1_2_5_21_1","first-page":"771","article-title":"Small supernumerary marker chromosomes detected in connection with infertility","volume":"20","author":"Liehr T","year":"2014","journal-title":"Zhonghua Nan Ke Xue"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1159\/000346026"},{"key":"e_1_2_5_23_1","first-page":"719","article-title":"Frequency of small supernumerary marker chromosomes in prenatal, newborn, developmentally retarded and infertility diagnostics","volume":"19","author":"Liehr T","year":"2007","journal-title":"Int J Mol Med"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.072785"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(91)90134-Z"},{"key":"e_1_2_5_26_1","first-page":"705","article-title":"Thirty\u2010two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: Detailed molecular cytogenetic characterization and review of the literature","volume":"21","author":"Manvelyan M","year":"2008","journal-title":"Int J Mol Med"},{"key":"e_1_2_5_27_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02185778"},{"key":"e_1_2_5_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.11.009"},{"key":"e_1_2_5_29_1","doi-asserted-by":"publisher","DOI":"10.1093\/genetics\/23.4.315"},{"key":"e_1_2_5_30_1","first-page":"111","article-title":"Chromosomal findings in 8727 Iranian patients with mental retardation","volume":"15","author":"Nasiri F","year":"2007","journal-title":"Eur J Hum Genet"},{"key":"e_1_2_5_31_1","first-page":"341","article-title":"Interstitial deletion 2p accompanied by marker chromosome formation of the deleted segment resulting in a stable acentric marker chromosome","volume":"8","author":"Petit P","year":"1997","journal-title":"Genet Couns"},{"key":"e_1_2_5_32_1","first-page":"247","article-title":"Interstitial deletion of chromosome 9q with coexistence of the deleted segment as a ring chromosome. A case report","volume":"34","author":"Pfeiffer RA","year":"1990","journal-title":"Ann Genet"},{"key":"e_1_2_5_33_1","doi-asserted-by":"publisher","DOI":"10.1159\/000109633"},{"key":"e_1_2_5_34_1","first-page":"241","article-title":"Interstitial deletion and ring chromosome derived from 19q. 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