1. [Prenatal diagnosis and genetic analysis of a rare case with 8p deletion and duplication].
- Author
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Chen X, Pan H, Zeng S, Jiang Y, Wang Y, and Zhuang J
- Subjects
- Humans, Child, Pregnancy, Female, Prenatal Diagnosis, Karyotyping, Chromosome Banding, Chromosome Deletion, Intellectual Disability diagnosis, Intellectual Disability genetics
- 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.
- Published
- 2023
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