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Product

Mosaic Maternal UPD15 in a Newborn with Complex Heart Defect

Center:

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

Fiscal Year:

2014

Contact Information:

Kellie Ellerbusch
[email protected]
402-559-4892

Product Description:

We present a case of a newborn male with MCA, including congenital heart defect, diagnosed by our laboratory with Prader Willi syndrome (PWS) caused by mosaic maternal uniparental disomy 15 (UPD15) with concomitant low-level trisomy 15 resulting from an incomplete trisomy 15 rescue. This report highlights the ability of SNP array to identify UPD and the importance of understanding the underlying mechanisms of UPD to make accurate diagnosis, interpretation, and appropriate recommendations. This report also illustrates the value of using a combination of genetic tests in order to make the correct diagnosis in some patients.

Keyword(s):

Mosaic Maternal UPD15, heart defect

Product/Publication Type(s):

Conference presentations and posters presented

Target Audience:

Professionals

Alternative Format:

Electronic (disc, CD, 508 compliant web posting)

To Obtain Copies (URL or Email):

[email protected]

COVID-19 Related Data:

N/A