Analysis of a case with heterozygous 14q12 deletion and FOXG1 gene-related disease / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 366-368, 2021.
Article
in Chinese
| WPRIM
| ID: wpr-879588
ABSTRACT
OBJECTIVE@#To describe the clinical and genetic characteristics of a child with 14q12q13.1 deletion involving the FOXG1 gene.@*METHODS@#Clinical manifestation of the child was analyzed. Peripheral blood sample of the patient was subjected to chromosomal karyotyping and single nucleotide polymorphism array (SNP-array) analysis.@*RESULTS@#The male infant has developed feeding difficulty, poor sucking, lower limb tremor, and frontal bruising 8 days after birth. Magnetic resonance imaging revealed significant enlargement of bilateral ventricles and corpus callosum dysplasia. Chromosomal analysis revealed a karyotype of 46,XY,del(14)(q12q13.1), and SNP-array confirmed that there was a 9.6 Mb deletion in 14q11.2q13.1, which encompassed the FOXG1 gene.@*CONCLUSION@#For patients with brain development abnormalities, dyskinesia, cognitive impairment, speech disorder and other manifestations, copy number variation of the FOXG1 gene should be excluded. SNP-array should be carried out as early as possible to attain the diagnosis.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Chromosome Deletion
/
Polymorphism, Single Nucleotide
/
Forkhead Transcription Factors
/
DNA Copy Number Variations
/
Heterozygote
/
Karyotyping
/
Nerve Tissue Proteins
Limits:
Child
/
Humans
/
Infant
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2021
Type:
Article
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