Cryptic del/dup aberration of 60.6 Mb at 5q15-5q23.3 predicting adult-onset leukodystrophy
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference10 articles.
1. Phenotypic, cytogenetic, and molecular studies of three patients with constitutional deletions of chromosome 5 in the region of the gene for familial adenomatous polyposis;Lindgren;Am. J. Hum. Genet.,1992
2. Molecular characterisation of a prenatally diagnosed 5q15q21.3 deletion and review of the literature;Malan;Prenat. Diagn.,2006
3. Familial short stature due to a 5q22.1-q23.2 duplication refines the 5q duplication spectrum;Zahnleiter;Eur. J. Med. Genet.,2011
4. Lamin B1 duplications cause autosomal dominant leukodystrophy;Padiath;Nat. Genet.,2006
5. Tandem duplication/deletion in a maternally derived chromosome 9 supernumerary derivative resulting in 9p trisomy and partial 9q tetrasomy;Wyandt;Am. J. Med. Genet.,2000
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