Patterns of homozygosity in patients with uniparental disomy: detection rate and suggested reporting thresholds for SNP microarrays

Author:

Hoppman Nicole,Rumilla Kandelaria,Lauer Emily,Kearney Hutton,Thorland Erik

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference8 articles.

1. Gardner R & Grant R. Chromosome Abnormalities and Genetic Counseling, 3rd edn, Oxford University Press: New York, 2004.

2. Wang J-C. Genomic imprinting and uniparental disomy. In: Gersen SL, Keagle MB (eds). The Principles of Clinical Cytogenetics. Springer: New York, 2013: 480–489.

3. Kearney HM, Kearney JB & Conlin LK. Diagnostic implications of excessive homozygosity detected by SNP-based microarrays: consanguinity, uniparental disomy, and recessive single-gene mutations. Clin Lab Med 2011;31:595–613, ix.

4. Driscoll DJ, Miller JL, Schwartz S & Cassidy SB. Prader-Willi syndrome. In: Pagon RA, Bird TD, Dolan CR, Stephens K (eds). GeneReviews. University of Washington: Seattle,: WA, 1993.

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