Clinical and genetic study of a child with 15q11.2 microduplication / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 64-66, 2020.
Article
em Zh
| WPRIM
| ID: wpr-798659
Biblioteca responsável:
WPRO
ABSTRACT
Objective@#To explore the genetic basis of a child with developmental delay and intellectual disability.@*Methods@#Peripheral blood samples of the child and his parents were collected for routine G-band karyotyping analysis and single nucleotide polymorphism array (SNP array) assay. Amniotic fluid sample was collected during the next pregnancy for prenatal diagnosis.@*Results@#No karyotypic abnormality was found in the child and his parents. SNP array showed that the child has carried a 855.3 kb microduplication in 15q11.2. His mother carried the same duplication but had no phenotypic anomaly. No microdeletion/microduplication was found in his father. Upon prenatal diagnosis, no abnormalities was found with the chromosomal karyotype and SNP array result of the fetus.@*Conclusion@#15q11.2 microduplication may result in developmental delay and intellectual disability, for which CYFIP1 may be a candidate gene. However, the duplication may increase the risk but with a low penetrance. This should attract attention during clinical consultation.
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Base de dados:
WPRIM
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2020
Tipo de documento:
Article