A Rare Recurrent 4q25 Proximal Deletion Not Involving the <b><i>PITX2</i></b> Gene: A Genomic Disorder Distinct from Axenfeld-Rieger Syndrome
نویسندگان
چکیده
منابع مشابه
22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome.
Microdeletions within chromosome 22q11.2 cause a variable phenotype, including DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS). About 97% of patients with DGS/VCFS have either a common recurrent approximately 3 Mb deletion or a smaller, less common, approximately 1.5 Mb nested deletion. Both deletions apparently occur as a result of homologous recombination between nonallelic flank...
متن کاملThe Axenfeld syndrome and the Rieger syndrome.
A family is reported in which both the syndrome of Axenfeld and the eye malformations of the syndrome of Rieger occur, indicating that both may be expressions of the same gene. We also review the associated anomalies already reported, emphasise their high incidence, suggest that these are not accidental associations, and propose some possible explanations for the high incidence.
متن کاملThe rare Axenfeld–Rieger syndrome with systemic anomalies
RATIONALE Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant disorder with ocular anterior segment dysgenesis and systemic anomalies. PATIENT CONCERNS A 28-year-old Chinese Han female was referred to Beijing Tongren Eye Center for progressive decrease of the visual acuity on her right eye in the past month. DIAGNOSES The patient was diagnosed as ARS with retinal detachment based on...
متن کاملIdentification of the first intragenic deletion of PITX2 gene causing an Axenfeld-Rieger- Syndrome
Identification of the first intragenic deletion of PITX2 gene causing an Axenfeld-RiegerSyndrome. Guillaume de la Houssaye, Ivan Bieche, Olivier Roche, Véronique Vieira, Ingrid Laurendeau, Laurence Arbogast, Hatem Zeghidi, Philippe Rapp, Philippe Halimi, Michel Vidaud, Maurice Menasche, Jean-Louis Dufier 1,3 & Marc Abitbol * 1 Centre de Recherche Thérapeutique en Ophtalmologie, EA n°2502, Facul...
متن کاملCurrent molecular understanding of Axenfeld-Rieger syndrome.
Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant inherited disorder affecting the development of the eyes, teeth and abdomen. The syndrome is characterised by complete penetrance but variable expressivity. The ocular component of the ARS phenotype has acquired most clinical attention and has been dissected into a spectrum of developmental eye disorders, of which open-angle glaucoma r...
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ژورنال
عنوان ژورنال: Molecular Syndromology
سال: 2016
ISSN: 1661-8769,1661-8777
DOI: 10.1159/000447077