{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:17:18Z","timestamp":1761718638833,"version":"3.37.3"},"reference-count":14,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2017,10,28]],"date-time":"2017-10-28T00:00:00Z","timestamp":1509148800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R37DE012528"],"award-info":[{"award-number":["R37DE012528"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,12]]},"abstract":"<jats:sec><jats:label\/><jats:p>Small supernumerary ring chromosome 6 (sSRC[6]) is a rare chromosomal abnormality characterized by a broad clinical phenotype. The spectrum of this disorder can range from phenotypically normal to severe developmental delay and congenital anomalies. We describe two unrelated patients with small SRCs derived from chromosome 6 with a novel bone phenotype. Both patients presented with a complex bone disorder characterized by severe osteopenia, pathologic fractures, and cyst\u2010like lesions within the bone. Imaging revealed decreased bone mineral density, mutiple multiloculated cysts and cortical thinning. Lesion pathology in both patients demonstrated a bland cyst wall with woven dysplastic appearing bone entrapped within it. In patient 1, array comparative genomic hybridization (CGH) detected a tandem duplication of region 6p12.3 to 6q12 per marker chromosome. Cytogenetic analysis further revealed a complex patient of mosaicism with some cell lines displaying either one or two copies of the marker indicative of both tetrasomy and hexasomy of this region. Patient 2 was mosaic for a sSRC that encompassed a 26.8 Mb gain from 6p21.2 to 6q12. We performed an in\u2010depth clinical analysis of a phenotype not previously observed in sSRC(6) patients and discuss the potential influence of genes located within this region on the skeletal presentation observed.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38498","type":"journal-article","created":{"date-parts":[[2017,10,28]],"date-time":"2017-10-28T11:26:36Z","timestamp":1509189996000},"page":"3205-3210","source":"Crossref","is-referenced-by-count":4,"title":["Aneurysmal bone cysts and pathologic fracture associated with supernumerary ring chromosome 6 in two unrelated patients"],"prefix":"10.1002","volume":"173","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9337-5615","authenticated-orcid":false,"given":"Lauren M.","family":"Hurd","sequence":"first","affiliation":[{"name":"Department of Biomedical Research Nemours\u2010Alfred I. duPont Hospital for Children Wilmington Delaware"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mihir M.","family":"Thacker","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery Nemours\u2010Alfred I. duPont Hospital for Children Wilmington Delaware"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ericka","family":"Okenfuss","sequence":"additional","affiliation":[{"name":"Department of Genetics Skeletal Dysplasia Program Kaiser Permanente Oakland California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2204-4659","authenticated-orcid":false,"given":"Angela L.","family":"Duker","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Nemours\u2010Alfred I. duPont Hospital for Children Wilmington Delaware"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yang","family":"Lou","sequence":"additional","affiliation":[{"name":"Orthopedics and Physical Rehabilitation University of Massachusetts Medical School Worcester Massachusetts"},{"name":"Yurogen Biosystems LLC. Worcester Massachusetts"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary P.","family":"Harty","sequence":"additional","affiliation":[{"name":"Department of Medical Imaging Nemours\u2010Alfred I. duPont Hospital for Children Wilmington Delaware"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katrina","family":"Conard","sequence":"additional","affiliation":[{"name":"Department of Pathology Nemours\u2010Alfred I. duPont Hospital for Children Wilmington Delaware"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jane B.","family":"Lian","sequence":"additional","affiliation":[{"name":"Orthopedics and Physical Rehabilitation University of Massachusetts Medical School Worcester Massachusetts"},{"name":"Department of Biochemistry Larner College of Medicine, University of Vermont Burlington Vermont"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6178-1264","authenticated-orcid":false,"given":"Michael B.","family":"Bober","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Nemours\u2010Alfred I. duPont Hospital for Children Wilmington Delaware"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,10,28]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1996.tb04323.x"},{"issue":"4","key":"e_1_2_6_3_1","first-page":"769","article-title":"Chromosomal origin of small ring marker chromosomes in man: Characterization by molecular genetics","volume":"48","author":"Callen D. 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