Journal
MOLECULAR CYTOGENETICS
Volume 7, Issue -, Pages -Publisher
BIOMED CENTRAL LTD
DOI: 10.1186/s13039-014-0094-3
Keywords
8p23.1 duplication syndrome; 8p23.1; SOX7; TNKS1; Developmental delay; Intellectual disability; SNP array
Categories
Ask authors/readers for more resources
Background: A 3.68 Mbp duplication of 8p23.1 defines the 8p23.1 duplication syndrome. The main features of this syndrome are developmental delay and/or learning problems. Results: Here we present a patient with a 1.80 Mbp duplication in 8p23.1 and characteristic signs and symptoms of the syndrome, including delay of motor and speech development and intellectual disability. Discussion: The case indicates that genes within this interval, in particular dosage sensitive genes SOX7 and TNKS1, and possibly MIR124-1 and MIR598 as well suffice to cause the pathognomonic features of the 8p23.1 duplication syndrome.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available