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.
Artículo
en Chino
| 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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Deleción Cromosómica
/
Polimorfismo de Nucleótido Simple
/
Factores de Transcripción Forkhead
/
Variaciones en el Número de Copia de ADN
/
Heterocigoto
/
Cariotipificación
/
Proteínas del Tejido Nervioso
Límite:
Niño
/
Humanos
/
Lactante
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2021
Tipo del documento:
Artículo
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