期刊
MOLECULAR CYTOGENETICS
卷 7, 期 -, 页码 -出版社
BIOMED CENTRAL LTD
DOI: 10.1186/s13039-014-0094-3
关键词
8p23.1 duplication syndrome; 8p23.1; SOX7; TNKS1; Developmental delay; Intellectual disability; SNP array
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.
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