{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,13]],"date-time":"2025-11-13T01:31:44Z","timestamp":1762997504562,"version":"3.40.5"},"reference-count":18,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,1,13]],"date-time":"2021-01-13T00:00:00Z","timestamp":1610496000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>At the 43rd annual meeting of the ASHG in 1993, the senior author reported monozygotic twins with discordant phenotype due to a ring 13 chromosomal mosaic syndrome in one of them. Her major manifestations included: intrauterine growth restriction (IUGR), failure to thrive (FTT), delayed developmental milestones\/intellectual disability (DDM\/ID), left hemihypoplasia of her body with leg length discrepancy, left profound deafness due to inner ear malformation, telecanthus, dental anomalies mainly on the left side, congenital torticollis due to Klippel\u2010Feil anomaly, 13 ribs, scoliosis, dislocation of the left hip, and distinctive left hand and feet. A blood karyotype at age 3<jats:sup>1\/2<\/jats:sup> was normal. Silver\u2010Russell syndrome was initially suspected; however, at age 4, a karyotype on skin fibroblasts showed a ring 13 chromosomal mosaicism, 46,XX,15s+\/46,XX,\u201013,+r(13),15s+, with a higher frequency on the left side of the body. Since then, we have been involved in the management of this patient for 30\u2009years. This has ultimately allowed us to compare her achievements with her normal monozygotic twin. In this long term follow\u2010up, we want to emphasize the importance of: (a) early recognition of genetic syndromes, especially of mosaicisms, and of early intervention programs, (b) the involvement of different specialists in the management of patients with MCA, and (c) mentioning how familial and socioeconomic issues may limit or enhance the full potential of patients with some genetic disorders.<\/jats:p>","DOI":"10.1002\/ajmg.a.62074","type":"journal-article","created":{"date-parts":[[2021,1,15]],"date-time":"2021-01-15T13:06:22Z","timestamp":1610715982000},"page":"1242-1246","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Lessons from a 30\u2009year follow\u2010up of monozygotic twins with discordant phenotype due to a ring 13 chromosomal mosaicism in one of them"],"prefix":"10.1002","volume":"185","author":[{"given":"Benjamin","family":"Chanes","sequence":"first","affiliation":[{"name":"Louisiana State University  Baton Rouge Louisiana USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marta","family":"Arriaza","sequence":"additional","affiliation":[{"name":"Division of Endocrinology and Genetics Hospital Dr. Gustavo Fricke  Vi\u00f1a del Mar Chile"},{"name":"Department of Pediatrics Universidad de Valpara\u00edso  Valpara\u00edso Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6231-4967","authenticated-orcid":false,"given":"Yves","family":"Lacassie","sequence":"additional","affiliation":[{"name":"Professor Emeritus, Department of Pediatrics, Division of Clinical Genetics LSU Health Sciences Center and Children's Hospital  New Orleans Louisiana USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,1,13]]},"reference":[{"key":"e_1_2_7_2_1","first-page":"147","article-title":"Molecular cytogenetic and phenotypic characterization of ring chromosome 13 in three unrelated patients","volume":"2","author":"Abdallah\u2010Bouhjar I. 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