Prenatal diagnosis and genetic analysis of a rare case with 8p deletion and duplication / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 96-100, 2023.
Artículo
en Chino
| WPRIM
| ID: wpr-970886
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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Diagnóstico Prenatal
/
Bandeo Cromosómico
/
Deleción Cromosómica
/
Cariotipificación
/
Discapacidad Intelectual
Límite:
Niño
/
Femenino
/
Humanos
/
Embarazo
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2023
Tipo del documento:
Artículo
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