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.
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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