{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T10:09:05Z","timestamp":1784714945809,"version":"3.55.0"},"reference-count":17,"publisher":"The Endocrine Society","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2011,2,1]]},"abstract":"<jats:title>abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Context:<\/jats:title>\n                  <jats:p>During meiosis I, the recombination frequency in the pseudoautosomal region on Xp and Yp (PAR1) in males is very high. As a result, mutated genes located within the PAR1 region can be transferred from the Y-chromosome to the X-chromosome and vice versa.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Patients:<\/jats:title>\n                  <jats:p>Here we describe three families with SHOX abnormalities resulting in Leri-Weill dyschondrosteosis or Langer mesomelic dysplasia.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results:<\/jats:title>\n                  <jats:p>In about half of the segregations investigated, a transfer of the SHOX abnormality to the alternate sex chromosome was demonstrated.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions:<\/jats:title>\n                  <jats:p>Patients with an abnormality of the SHOX gene should receive genetic counseling as to the likelihood that they may transmit the mutation or deletion to a son as well as to a daughter.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/jc.2010-1505","type":"journal-article","created":{"date-parts":[[2010,11,11]],"date-time":"2010-11-11T02:11:49Z","timestamp":1289441509000},"page":"E356-E359","source":"Crossref","is-referenced-by-count":14,"title":["The Jumping SHOX Gene\u2014Crossover in the Pseudoautosomal Region Resulting in Unusual Inheritance of Leri-Weill Dyschondrosteosis"],"prefix":"10.1210","volume":"96","author":[{"given":"Sarina G.","family":"Kant","sequence":"first","affiliation":[{"name":"Center for Human and Clinical Genetics (CHCG)-Department of Clinical Genetics (S.G.K., M.K., M.H.B.), Leiden University Medical Center, 2300 RC Leiden, The Netherlands;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hetty J.","family":"van der Kamp","sequence":"additional","affiliation":[{"name":"Department of Paediatrics (H.J.v.d.K., B.B., J.M.W.), Leiden University Medical Center, 2300 RC Leiden, The Netherlands;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marjolein","family":"Kriek","sequence":"additional","affiliation":[{"name":"Center for Human and Clinical Genetics (CHCG)-Department of Clinical Genetics (S.G.K., M.K., M.H.B.), Leiden University Medical Center, 2300 RC Leiden, The Netherlands;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Egbert","family":"Bakker","sequence":"additional","affiliation":[{"name":"CHCG-Laboratory for Diagnostic Genome Analysis (E.B., M.J.v.H., P.v.B., M.L.), Leiden University Medical Center, 2300 RC Leiden, The Netherlands;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Boudewijn","family":"Bakker","sequence":"additional","affiliation":[{"name":"Department of Paediatrics (H.J.v.d.K., B.B., J.M.W.), Leiden University Medical Center, 2300 RC Leiden, The Netherlands;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariette J. V.","family":"Hoffer","sequence":"additional","affiliation":[{"name":"CHCG-Laboratory for Diagnostic Genome Analysis (E.B., M.J.v.H., P.v.B., M.L.), Leiden University Medical Center, 2300 RC Leiden, The Netherlands;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"van Bunderen","sequence":"additional","affiliation":[{"name":"CHCG-Laboratory for Diagnostic Genome Analysis (E.B., M.J.v.H., P.v.B., M.L.), Leiden University Medical Center, 2300 RC Leiden, The Netherlands;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monique","family":"Losekoot","sequence":"additional","affiliation":[{"name":"CHCG-Laboratory for Diagnostic Genome Analysis (E.B., M.J.v.H., P.v.B., M.L.), Leiden University Medical Center, 2300 RC Leiden, The Netherlands;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saskia M.","family":"Maas","sequence":"additional","affiliation":[{"name":"Departments of Clinical Genetics (S.M.M.) Academic Medical Centre, 1105 AZ Amsterdam, The Netherlands;"},{"name":"Departments of Paediatrics (S.M.M.), Academic Medical Centre, 1105 AZ Amsterdam, The Netherlands;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan M.","family":"Wit","sequence":"additional","affiliation":[{"name":"Department of Paediatrics (H.J.v.d.K., B.B., J.M.W.), Leiden University Medical Center, 2300 RC Leiden, The Netherlands;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gudrun","family":"Rappold","sequence":"additional","affiliation":[{"name":"Departments of Human Molecular Genetics (G.R.), University of Heidelberg, 69120 Heidelberg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martijn H.","family":"Breuning","sequence":"additional","affiliation":[{"name":"Center for Human and Clinical Genetics (CHCG)-Department of Clinical Genetics (S.G.K., M.K., M.H.B.), Leiden University Medical Center, 2300 RC Leiden, The Netherlands;"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","reference":[{"key":"2020071613593132100_B1","doi-asserted-by":"crossref","first-page":"5674","DOI":"10.1210\/jcem.86.12.8125","article-title":"Phenotypes associated with SHOX deficiency.","volume":"86","author":"Ross","year":"2001","journal-title":"J Clin Endocrinol Metab"},{"key":"2020071613593132100_B2","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1136\/jmg.2006.046581","article-title":"Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency.","volume":"44","author":"Rappold","year":"2007","journal-title":"J Med Genet"},{"key":"2020071613593132100_B3","doi-asserted-by":"crossref","first-page":"4403","DOI":"10.1210\/jc.2004-0591","article-title":"SHOX haploinsufficiency and Leri-Weill dyschondrosteosis: prevalence and growth failure in relation to mutation, sex, and degree of wrist deformity.","volume":"89","author":"Binder","year":"2004","journal-title":"J Clin Endocrinol Metab"},{"key":"2020071613593132100_B4","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1086\/449313","article-title":"A novel class of pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis.","volume":"77","author":"Benito-Sanz","year":"2005","journal-title":"Am J Hum Genet"},{"key":"2020071613593132100_B5","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1203\/00006450-200003000-00006","article-title":"Continuing positive secular growth change in The Netherlands 1955\u20131997.","volume":"47","author":"Fredriks","year":"2000","journal-title":"Pediatr Res"},{"key":"2020071613593132100_B6","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1136\/adc.2004.050799","article-title":"Nationwide age references for sitting height, leg length, and sitting height\/height ratio, and their diagnostic value for disproportionate growth disorders.","volume":"90","author":"Fredriks","year":"2005","journal-title":"Arch Dis Child"},{"key":"2020071613593132100_B7","first-page":"140","volume-title":"Paediatric morphometrics\u2014a reference manual","author":"Gerver","year":"1996","edition":"1st ed"},{"key":"2020071613593132100_B8","article-title":"Radiographic atlas of skeletal development of the hand and wrist","author":"Greulich","year":"1959","edition":"2nd ed"},{"key":"2020071613593132100_B9","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1093\/hmg\/ddl470","article-title":"Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients.","volume":"16","author":"Sabherwal","year":"2007","journal-title":"Hum Mol Genet"},{"key":"2020071613593132100_B10","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1016\/j.gde.2006.04.004","article-title":"The pseudoautosomal regions, SHOX and disease.","volume":"16","author":"Blaschke","year":"2006","journal-title":"Curr Opin Genet Dev"},{"key":"2020071613593132100_B11","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1038\/319258a0","article-title":"Mammalian X and Y crossover.","volume":"319","author":"Burgoyne","year":"1986","journal-title":"Nature"},{"key":"2020071613593132100_B12","first-page":"423","article-title":"Multipoint linkage map of the human pseudoautosomal region, based on single-sperm typing: do double crossovers occur during male meiosis?","volume":"55","author":"Schmitt","year":"1994","journal-title":"Am J Hum Genet"},{"key":"2020071613593132100_B13","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1038\/ng918","article-title":"Crossover clustering and rapid decay of linkage disequilibrium in the Xp\/Yp pseudoautosomal gene SHOX.","volume":"31","author":"May","year":"2002","journal-title":"Nat Genet"},{"key":"2020071613593132100_B14","doi-asserted-by":"crossref","first-page":"1337","DOI":"10.1093\/hmg\/3.8.1337","article-title":"Double crossover in the human Xp\/Yp pseudoautosomal region and its bearing on interference.","volume":"3","author":"Rappold","year":"1994","journal-title":"Hum Mol Genet"},{"key":"2020071613593132100_B15","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1086\/302754","article-title":"Evidence for heterogeneity in recombination in the human pseudoautosomal region: high resolution analysis by sperm typing and radiation-hybrid mapping.","volume":"66","author":"Lien","year":"2000","journal-title":"Am J Hum Genet"},{"key":"2020071613593132100_B16","doi-asserted-by":"crossref","first-page":"758","DOI":"10.1136\/jmg.39.10.758","article-title":"Prevalence of mutations in the short stature homeobox containing gene (SHOX) in Madelung deformity of childhood.","volume":"39","author":"Flanagan","year":"2002","journal-title":"J Med 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