Bilateral preaxial polydactyly in a WAGR syndrome patient
Manoukian, Siranoush, Crolla, John A., Mammoliti, Palma M.A., Testi, Maria Adele, Zanini, Rinaldo, Carpanelli, Maria Luisa, Piozzi, Elena, Sozzi, Gabriella, De Vecchi, Giovanna, Terenziani, Monica, Spreafico, Filippo, Collini, Paola, Radice, Paolo and Perotti, Daniela (2005) Bilateral preaxial polydactyly in a WAGR syndrome patient. American Journal of Medical Genetics Part A, 134A, (4), 426-429. (doi:10.1002/ajmg.a.30647).
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We report on a 30-month-old baby girl with typical clinical features of WAGR syndrome. In addition, the patient showed bilateral preaxial polydactyly of the feet. Cytogenetic and fluorescent in situ hybridization (FISH) analyses identified a deletion, del(11)(p13p14.1), extending from 6.1 to 21.7 Mb in size. Although the simultaneous appearance of WAGR and polydactyly has been already described, to our knowledge this is the first case in which the characterization at the cytogenetic molecular level of a patient with these phenotypes is reported. These observations indicate that preaxial polydactyly may be another feature of the WAGR syndrome and suggest the existence of a related gene in the WAGR critical region or in its proximity
|Digital Object Identifier (DOI):||doi:10.1002/ajmg.a.30647|
|Keywords:||polymerase chain reaction, fluorescence, report, phenotype, wt1 proteins, observation,preschool, syndrome, female, research support, restriction fragment length, child, pair 11, in situ hybridization, karyotyping, hallux, dna, humans, abnormalities, polymorphism, chromosome banding, chromosome deletion, polydactyly, proteins, non-us government, human, genetics, chromosomes, microsatellite repeats, in situ hybridization, pathology, wagr syndrome, multiple, protein|
|Subjects:||Q Science > QH Natural history > QH426 Genetics
R Medicine > RJ Pediatrics > RJ101 Child Health. Child health services
|Divisions:||University Structure - Pre August 2011 > School of Medicine
|Date Deposited:||03 Sep 2008|
|Last Modified:||31 Mar 2016 12:42|
|RDF:||RDF+N-Triples, RDF+N3, RDF+XML, Browse.|
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