Wilms tumor in a patient with 22q11.2 microdeletion

22q11.2 deletion syndrome is the most common microdeletion syndrome. Wilms tumor is one of the most common solid tumors in childhood yet 22q11.2 deletion and Wilms tumor only once have been reported in the same patient. Here we describe a young patient with subtle clinical findings suggestive of 22q...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2011-05, Vol.155 (5), p.1162-1164
Main Authors: Finch, Paul T., Pivnick, Eniko K., Furman, Wayne, Odom, Christine C.
Format: Article
Language:English
Subjects:
22q11.2 deletion
Biological and medical sciences
Child, Preschool
Children
Chromosome Deletion
Chromosomes, Human, Pair 22
DiGeorge syndrome
Humans
Kidneys
Male
Malignancy
Medical genetics
Medical sciences
Nephrology. Urinary tract diseases
Phenotypes
Solid tumors
Tumors
Tumors of the urinary system
VCFS
Vigilance
Wilms tumor
Wilms Tumor - genetics
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Summary:22q11.2 deletion syndrome is the most common microdeletion syndrome. Wilms tumor is one of the most common solid tumors in childhood yet 22q11.2 deletion and Wilms tumor only once have been reported in the same patient. Here we describe a young patient with subtle clinical findings suggestive of 22q11.2 at the time of diagnosis who subsequently developed Wilms tumor. We assert the importance of a low threshold for screening for 22q11.2 deletion and the associated phenotypes and maintaining vigilance in screening for common primary malignancies in patients with known 22q11.2 deletion. © 2011 Wiley‐Liss, Inc.
ISSN:1552-4825
1552-4833
1552-4833
DOI:10.1002/ajmg.a.33957