A case of 10p15.3 microdeletion syndrome detected by whole exome sequencing / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 331-335, 2019.
Artigo
em Chinês
| WPRIM
| ID: wpr-772014
ABSTRACT
OBJECTIVE@#To report on a case of 10p15.3 microdeletion syndrome and to explore its clinical and molecular characteristics.@*METHODS@#The patient was subjected to whole exome sequencing (WES), with his clinical features discussed in the light of literature review.@*RESULTS@#The patient presented with global developmental delay, hypotonia, autistic-like traits, mild facial dysmorphism and other features including short stature, small hands and feet, congenital heart disease and feeding difficulty. WES has detected deletions of ZMYND11, DIP2C, LARP4B, TUBB8, GTPBP4, IDI2, IDI1, WOR37 and ADARB2 genes on the short arm of chromosome 10. Among these, ZMYND11 gene been previously associated with intellectual disability.@*CONCLUSION@#The patient's phenotype was closely correlated with that of 10p15.3 microdeletion syndrome. Haploinsufficiency of the ZMYND11 gene may underlie the manifestations of 10p15.3 microdeletion syndrome.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fenótipo
/
Tubulina (Proteína)
/
Cromossomos Humanos Par 10
/
Proteínas Nucleares
/
Proteínas de Transporte
/
Deleção Cromossômica
/
Proteínas de Ligação ao GTP
/
Exoma
/
Sequenciamento do Exoma
/
Deficiência Intelectual
Limite:
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2019
Tipo de documento:
Artigo
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