Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome with deletion of chromosome 11p14.3p12
Journal of Genetic Medicine
;
: 38-42, 2018.
Article
in English
| WPRIM
| ID: wpr-715201
ABSTRACT
WAGR (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) syndrome is a rare contiguous gene deletion syndrome caused by deleting genes including WT1 and PAX6 genes in 11p13 region, which is characterized by Wilms tumor, aniridia, genitourinary abnormalities, and intellectual disability. We report the clinical and cytogenetic characteristics of one Korean patient with WAGR syndrome. The patient shows bilateral sporadic aniridia and genital anomalies at 2 months of age. A heterozygous 14.5 Mb interstitial deletion of 11p14.3p12 region was detected by array comparative genomic hybridization. At 2 years and 10 months of age, Wilms tumor is found through regularly abdominal ultrasonography and treated by chemotherapy, radiation therapy and surgery.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Urogenital Abnormalities
/
Aniridia
/
Ultrasonography
/
Gene Deletion
/
WAGR Syndrome
/
Wilms Tumor
/
Cytogenetics
/
Drug Therapy
/
Comparative Genomic Hybridization
/
Intellectual Disability
Type of study:
Diagnostic study
Limits:
Humans
Language:
English
Journal:
Journal of Genetic Medicine
Year:
2018
Type:
Article
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