|

AUCD Community Inclusion

AUCD’s Community Inclusion Team supports the University Centers for Excellence in Developmental Disabilities (UCEDD) Network in partnership with the Administration for Community Living.

Learn More
|

AUCD Maternal and Child Health Engagement

AUCD’s Maternal and Child Health Engagement supports the Autism CARES Programs, including LEND and DBP Programs.

Learn More
|

AUCD Public Health

AUCD’s Public Health Team works to create health promotion and public health efforts that include people with disabilities.

Learn More
|

AUCD Emerging Leaders Community

AUCD Emerging Leaders are a part of a community that includes trainees, early career professionals, self-advocates, and family members from AUCD member Centers and Programs.

Learn More

Donate

Product

Occurrence of nephroblastomatosis with dup(18)(q11.2-q23) implicates trisomy 18 tumor screening protocol in select patients with 18q duplication

Center:

NE-Munroe-Meyer Institute of Genetics & Rehabilitation, UCEDD/LEND

Fiscal Year:

2014

Contact Information:

Warren Sanger
[email protected]
402-559-6328

Product Description:

Duplications of the long arm of chromosome 18 have been previously reported in patients with phenotypic findings similar to full trisomy 18. Trisomy 18 increases the risk for Wilms tumor and it is currently recommended that these patients undergo abdominal ultrasonography screening every 6 months. We report on nephroblastomatosis in a 27-month-old male with a 55 Mb duplication of chromosome 18q11.2-q23 (chr18:2269337077982126, hg 19) and propose that the trisomy 18 tumor screening protocol could also benefit patients with large 18q duplications

Keyword(s):

Trisomy 18, partial trisomy 18, 18q duplication, nephroblastomosis, Wilms tumor

Product/Publication Type(s):

Peer-reviewed publications in scholarly journals Published/In Press

Target Audience:

Professionals, Students

Alternative Format:

To Obtain Copies (URL or Email):

http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)1552-4833

COVID-19 Related Data:

N/A

1100 Wayne Avenue, Suite 1000 Silver Spring, MD 20910