8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families
<p>Abstract</p> <p>Background</p> <p>The 8p23.1 duplication syndrome and copy number variation of the 8p23.1 defensin gene cluster are cytogenetically indistinguishable but distinct at the molecular level. To our knowledge, the 8p23.1 duplication syndrome has been descr...
Main Authors: | Alves Claudia, Liehr Thomas, Dermitzel Anette, Morlot Susanne, Robinson Denise, Curtis Merryl, Bunyan Dave, Barber John CK, Trindade Joana, Paramos Ana I, Cooper Clare, Ocraft Kevin, Taylor Emma-Jane, Maloney Viv K |
---|---|
Format: | Article |
Language: | English |
Published: |
BMC
2010-02-01
|
Series: | Molecular Cytogenetics |
Online Access: | http://www.molecularcytogenetics.org/content/3/1/3 |
Similar Items
-
Association studies of the copy-number variable ß-defensin cluster on 8p23.1 in adenocarcinoma and chronic pancreatitis
by: Taudien Stefan, et al.
Published: (2012-11-01) -
Polymorphic segmental duplications at 8p23.1 challenge the determination of individual defensin gene repertoires and the assembly of a contiguous human reference sequence
by: Loncarevic Ivan F, et al.
Published: (2004-12-01) -
Duplicators and document copying machines
by: 8096 British Standards Institution -
Paper (duplicating, copy, liquid process)
by: 982 SIRIM -
Prenatal Lethal Diagnosis of 8p23.1 Duplication Syndrome Associated with Omphalocele and Encephalocele
by: Melissa A. Hicks, et al.
Published: (2023-01-01)