{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,12]],"date-time":"2025-09-12T17:43:47Z","timestamp":1757699027140},"reference-count":23,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2013,7,25]],"date-time":"2013-07-25T00:00:00Z","timestamp":1374710400000},"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":[[2013,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label \/><jats:p>We present a girl with the characteristic clinical picture associated with Marden\u2013Walker syndrome (MWS; OMIM 248700), including mask\u2010like face with blepharophimosis, joint contractures, intellectual disability, a multicystic dysplastic kidney and cerebral dysgenesis. The long\u2010term follow\u2010up allowed us to monitor the evolution of the phenotype in this patient, and among the main findings we highlight the following: demyelination of the pyramidal tract demonstrated by transcranial magnetic stimulation and the involvement of the levator muscles of angle of mouth in fixed facial expression with relative integrity of the rest of the facial expression muscles. A 244\u2009k array comparative genomic hybridization (aCGH) was carried out and showed a de novo interstitial deletion of approximately 2.84\u2009Mb affecting only the cytoband 21q22.11 (genome coordinates chr21:31,874,016\u201334,711,763). We selected 10 of the most recent published cases with either total or partial deletions of cytoband 21q22.11 that provided good characterization of the genomic size or the genes in the deleted regions. We observed that in nine of the 10 cases the deleted regions included the <jats:italic>RUNX1<\/jats:italic> gene in 21q22.12, which is not affected in the current patient's deletion or in that of Patient 3 from Roberson et al. [2011]. After a comparison of shared deleted genes between cases, and correlation of their potential phenotypes, we concluded that the pattern of defects considered for a diagnosis of MWS may represent part of the phenotypic expression of a partial or total deletion of 21q22.11. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.35862","type":"journal-article","created":{"date-parts":[[2013,7,25]],"date-time":"2013-07-25T21:04:24Z","timestamp":1374786264000},"page":"2281-2290","source":"Crossref","is-referenced-by-count":8,"title":["A 2.84\u2009Mb deletion at 21q22.11 in a patient clinically diagnosed with marden\u2013walker syndrome"],"prefix":"10.1002","volume":"161","author":[{"given":"Mar\u00eda Carmen","family":"Carrascosa\u2010Romero","sequence":"first","affiliation":[{"name":"Neurolog\u00eda Neonatal. Servicio de Pediatr\u00eda Complejo Hospitalario Universitario de Albacete Albacete Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Javier","family":"Suela","sequence":"additional","affiliation":[{"name":"NIMGenetics (New Integrated Medical Genetics) Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9 Manuel","family":"Pardal\u2010Fern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Neurofisiolog\u00eda. Servicio de Pediatr\u00eda Complejo Hospitalario Universitario de Albacete Albacete Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eva","family":"Bermejo\u2010S\u00e1nchez","sequence":"additional","affiliation":[{"name":"Instituto de Investigaci\u00f3n de Enfermedades Raras (IIER) Instituto de Salud Carlos III Ministerio de Econom\u00eda y Competitividad Madrid Spain"},{"name":"Spanish Collaborative Study of Congenital Malformations (ECEMC) CIAC (Research Center on Congenital Anomalies) Instituto de Salud Carlos III Madrid Spain"},{"name":"CIBER de Enfermedades Raras (CIBERER) Instituto de Salud Carlos III Ministerio de Econom\u00eda y Competitividad Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alberto","family":"Vidal\u2010Company","sequence":"additional","affiliation":[{"name":"Nefrolog\u00eda pedi\u00e1trica. Servicio de Pediatr\u00eda Complejo Hospitalario Universitario de Albacete Albacete Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandra","family":"MacDonald","sequence":"additional","affiliation":[{"name":"Spanish Collaborative Study of Congenital Malformations (ECEMC) CIAC (Research Center on Congenital Anomalies) Instituto de Salud Carlos III Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roque","family":"T\u00e9bar\u2010Gil","sequence":"additional","affiliation":[{"name":"Jefe del Servicio de Pediatr\u00eda Complejo Hospitalario Universitario de Albacete Albacete Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda Luisa","family":"Mart\u00ednez\u2010Fern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Spanish Collaborative Study of Congenital Malformations (ECEMC) CIAC (Research Center on Congenital Anomalies) Instituto de Salud Carlos III Madrid Spain"},{"name":"CIBER de Enfermedades Raras (CIBERER) Instituto de Salud Carlos III Ministerio de Econom\u00eda y Competitividad Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda Luisa","family":"Mart\u00ednez\u2010Fr\u00edas","sequence":"additional","affiliation":[{"name":"Spanish Collaborative Study of Congenital Malformations (ECEMC) CIAC (Research Center on Congenital Anomalies) Instituto de Salud Carlos III Madrid Spain"},{"name":"CIBER de Enfermedades Raras (CIBERER) Instituto de Salud Carlos III Ministerio de Econom\u00eda y Competitividad Madrid Spain"},{"name":"Departamento de Farmacolog\u00eda Facultad de Medicina Universidad Complutense de Madrid. 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