A Novel 800 kb Microduplication of Chromosome 16q22.1 Resulting in Learning Disability and Epilepsy May Explain Phenotypic Variability in a Family With 15q13 Microdeletion

作者：Banka Siddharth^*; Fitzgibbon Gregory J; Gaunt Lorraine; Rankin Wendy J; Clayton Smith Jill

来源：American Journal of Medical Genetics, Part A, 2011, 155A(6): 1453-1457.

DOI：10.1002/ajmg.a.34034

• 16q22 duplication
• 15q13 deletion
• second-hit hypothesis
• epilepsy
• learning difficulties
• obesity
• tapering fingers
• short toes
• SNTB2
• WWP2

The phenotype of 15q13.3 microdeletion is variable and can be non-penetrant. Recently, "second-hit hypothesis'' has been proposed as a possible explanation for some variability in recurrent microdeletion syndromes. We present a family with a 1.9Mb 15q13.3 deletion and a novel 800 kb 16q22.1duplication. We show that the 16q22.1 duplication may be a phenotypic modifier in this family and likely results in epilepsy and learning difficulties. We state the possible genes in this region that may be important in neurological development and function.

• 出版日期2011-6