Prenatal diagnosis and genetic analysis of a rare case with 8p deletion and duplication / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To explore the genetic etiology for a child featuring mental retardation, language delay and autism.@*METHODS@#G-banding chromosomal karyotyping and single nucleotide polymorphism array (SNP-array) were carried out for the child and her parents.@*RESULTS@#The child was found to have a 46,XX,dup(8p?) karyotype, for which both of her parents were normal. SNP-array revealed that the child has harbored a 6.8 Mb deletion in 8p23.3p23.1 and a 21.8 Mb duplication in 8p23.1p12, both of which were verified as de novo pathogenic copy number variants.@*CONCLUSION@#The clinical features of the child may be attributed to the 8p deletion and duplication. SNP-array can facilitate genetic diagnosis for children featuring mental retardation in conjunct with other developmental anomalies.