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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Original Publication URL: http://dx.doi.org/10.1002/ajmg.a.30647

Description/Abstract

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

Item Type: Article
ISSNs: 1552-4825 (print)
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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
ePrint ID: 60023
Date Deposited: 03 Sep 2008
Last Modified: 27 Mar 2014 18:42
URI: http://eprints.soton.ac.uk/id/eprint/60023

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