Mendelian Diseases
Multifactorial Diseases
Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Recombinant chromosome 8 syndrome (San Luis Valley syndrome)

OMIM:179613
Mode of inheritance:Autosomal dominant
Disease classification:Congenital malformations and chromosomal abnormalities


Mutations

Gene Symbolregion p23.2q22.3
DNA Changerec(8)dup(8q)inv(8)
A.A. Change
Exon/Intron
Mutation Typeothers
ReferenceVera-Carbonell A, López-González V, Bafalliu JA, Piñero-Fernández J, Susmozas J, Sorli M, López-Pérez R, Fernández A, Guillén-Navarro E, López-Expósito I.Pre- and postnatal findings in a patient with a novel rec(8)dup(8q)inv(8)(p23.2q22.3) associated with San Luis Valley syndrome.
Am J Med Genet A. 2013 Sep;161(9):2369-75.

  Variant not named according to HGVS recommendations