DNA Rearrangements on Both Homologues of Chromosome 17 in a Mildly Delayed Individual with a Family History of Autosomal Dominant Carpal Tunnel Syndrome

Author:

Potocki Lorraine,Chen Ken-Shiung,Koeuth Thearith,Killian James,Iannaccone Susan T.,Shapira Stuart K.,Kashork Catherine D.,Spikes Aimee S.,Shaffer Lisa G.,Lupski James R.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference40 articles.

1. Partial duplication of 17p: a new chromosomal syndrome;Bartsch-Sandhoff;Hum Genet,1979

2. Two patients with duplication of 17p11.2: the reciprocal of the Smith-Magenis syndrome deletion?;Brown;Am J Med Genet,1996

3. Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17;Chance;Hum Mol Genet,1994

4. DNA deletion associated with hereditary neuropathy with liability to pressure palsies;Chance;Cell,1993

5. The human homologue of the Drosophila melanogaster flightless-I gene (fliI) maps within the Smith-Magenis microdeletion critical region in 17p11.2;Chen;Am J Hum Genet,1995

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