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Genetic analysis of a rare case of Pitt-Hopkins syndrome due to partial deletion of TCF4 gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 459-461, 2020.
Article in Chinese | WPRIM | ID: wpr-826555
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a child featuring delayed intellectual development.@*METHODS@#The child and his parents were subjected to conventional G-banding karyotyping and single nucleotide polymorphism array (SNP-array) analysis. Suspected copy number variations (CNVs) were verified in both parents.@*RESULTS@#No karyotypic abnormality was found with the child and his parents. SNP-array results for both parents were normal. The child was found to harbor a de novo 172 kb deletion at 18q21.2 with a physical position of 52 957 042-53 129 237. The deletion only involved one OMIM gene, namely TCF4, resulting in removal of its exons 6 to 8.@*CONCLUSION@#The SNP-array assay has facilitated with the diagnosis of this child. Deletion of 18q21.2 region probably accounts for the Pitt-Hopkins syndrome (PTHS) in this patient.
Subject(s)
Full text: Available Index: WPRIM (Western Pacific) Main subject: Phenotype / Chromosomes, Human, Pair 18 / Developmental Disabilities / Chromosome Deletion / Facies / DNA Copy Number Variations / Transcription Factor 4 / Genetics / Hyperventilation / Intellectual Disability Limits: Child / Humans Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2020 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Phenotype / Chromosomes, Human, Pair 18 / Developmental Disabilities / Chromosome Deletion / Facies / DNA Copy Number Variations / Transcription Factor 4 / Genetics / Hyperventilation / Intellectual Disability Limits: Child / Humans Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2020 Type: Article