Bilateral preaxial polydactyly in a WAGR syndrome patient.
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.
Manoukian
Siranoush
S
Department of Experimental Oncology, Istituto Nazionale Tumori, Milan, Italy.
Crolla
John A
JA
Mammoliti
Palma M A
PM
Testi
Maria Adele
MA
Zanini
Rinaldo
R
Carpanelli
Maria Luisa
ML
Piozzi
Elena
E
Sozzi
Gabriella
G
De Vecchi
Giovanna
G
Terenziani
Monica
M
Spreafico
Filippo
F
Collini
Paola
P
Radice
Paolo
P
Perotti
Daniela
D
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D004247:DNA / Q000235:genetics; D005260:Female; D006214:Hallux; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D018895:Microsatellite Repeats; D017689:Polydactyly / Q000473:pathology*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D017624:WAGR Syndrome / Q000473:pathology*; D025721:WT1 Proteins / Q000235:genetics
D025721:WT1 Proteins; D004247:DNA