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
Copyright policy )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
AbstractThe 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 1.9 Mb 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. © 2011 Wiley‐Liss, Inc.
- University of Salford United Kingdom
- Manchester University NHS Foundation Trust United Kingdom
- St Mary's Hospital Canada
- St Mary's Hospital United Kingdom
- Solent NHS Trust United Kingdom
Adult, Male, Learning difficulties, Adolescent, SNTB2, Learning disabilities/pathology, 15q13 deletion, Chromosome Disorders, Epilepsy/pathology, Epilepsy/genetics, Learning disabilities/genetics, Chromosome Duplication, Humans, Tapering fingers, Obesity, Short toes, Child, Chromosome disorders, 16q22 duplication, Chromosomes, Human, Pair 15, Epilepsy, Learning Disabilities, Second-hit hypothesis, Pedigree, Chromosome deletion, WWP2, Phenotype, Female, Chromosome Deletion, Chromosomes, Human, Pair 16
Adult, Male, Learning difficulties, Adolescent, SNTB2, Learning disabilities/pathology, 15q13 deletion, Chromosome Disorders, Epilepsy/pathology, Epilepsy/genetics, Learning disabilities/genetics, Chromosome Duplication, Humans, Tapering fingers, Obesity, Short toes, Child, Chromosome disorders, 16q22 duplication, Chromosomes, Human, Pair 15, Epilepsy, Learning Disabilities, Second-hit hypothesis, Pedigree, Chromosome deletion, WWP2, Phenotype, Female, Chromosome Deletion, Chromosomes, Human, Pair 16
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