Clinical and genetic analysis of a child with chromosomal 13q32.1-q33.3 deletion / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1213-1218, 2019.
Artigo
em Chinês
| WPRIM
| ID: wpr-781313
ABSTRACT
OBJECTIVE@#To explore the genetic etiology of a child with moderate mental retardation and multiple malformations.@*METHODS@#The child and his parents underwent conventional G banding karyotype analysis and single nucleotide polymorphism-based mircoarray (SNP-array) scan. A systematic review for chromosome 13q deletions was also conducted to explore the correlation between genotype and clinical phenotypes.@*RESULTS@#G banding karyotype of the child showed a partial deletion in the long arm of chromosome 13 described as 46,XY,del(13)(q32). SNP-array detected a deletion fragment of 11.367 Mb in 13q32.1-q33.3 region, which encompassed 30 OMIM (Online Mendelian Inheritance in Man) genes including FARP1, STK24 and ZIC2. The parents were found with no obvious abnormality in their karyotypes and SNP-array results, suggesting a de novo origin for the deletion. Combined with previous reported cases, chromosomal 13q deletions seem to have various pathogenic effects on the patients.@*CONCLUSION@#Chromosomal 13q32.1-q33.3 deletion probably underlies the disease phenotype in the child, and EFNB2 may be a candidate gene for congenital heart defect, genital malformation, hypospadias and anorectal malformations.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Anormalidades Múltiplas
/
Cromossomos Humanos Par 13
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Bandeamento Cromossômico
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Deleção Cromossômica
/
Transtornos Cromossômicos
/
Genética
/
Cariotipagem
Limite:
Criança
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2019
Tipo de documento:
Artigo
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