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Molecular (SNP) analyses of overlapping hemizygous deletions of 10q25.3 to 10qter in four patients

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Fiscal Year:
2009
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Product Description:
We report on the analyses of four unrelated patients with de novo, overlapping, hemizygous deletions of the long arm of chromosome 10. These include two small terminal deletions (10q26.2 to 10qter), a larger terminal deletion (10q26.12 to 10qter), and an interstitial deletion (10q25.3q26.13). Single nucleotide polymorphism (SNP) studies (Illumina 550 K) established that these deletions resulted in the hemizygous loss of approximately 6.1, approximately 6.1, approximately 12.5, and approximately 7.0 Mb respectively.
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Peer-reviewed publications in scholarly journals Published/In Press
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Professionals
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