Article
Rare etiology of autosomal recessive disease in a child with noncarrier parents.
American journal of human genetics - 1 Sept 2000
Lebo R V, Shapiro L R, Fenerci E Y, Hoover J M, Chuang J L, Chuang D T, Kronn D F
Abstract excerpt
A child with maple syrup urine disease type 2 (MSUD2) was found to be homozygous for a 10-bp MSUD2-gene deletion on chromosome 1. Both purported parents were tested, and neither carries the gene deletion. Polymorphic simple-sequence repeat analyses at 15 loci on chromosome 1 and at 16 loci on other chromosomes confirmed parentage and revealed that a de novo mutation prior to maternal meiosis I, followed by...
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