Clinical phenotype and genetic analysis of three pedigrees with 17q12 microdeletion syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 397-400, 2020.
Artigo
em Chinês
| WPRIM
| ID: wpr-828316
ABSTRACT
OBJECTIVE@#To explore the genetic etiology of three pedigrees with a gestational history of fetal renal anomalies.@*METHODS@#Peripheral venous blood or skin samples were derived from the probands of the three pedigrees. Copy number variation sequencing (CNV-seq) was applied to detect alterations of genome CNVs.@*RESULTS@#The patient from pedigree 1 and the fetuses from pedigrees 2 and 3 all carried a heterozygous 17q12 deletion, with the size ranging from 1.4 Mb to 1.48 Mb encompassing the HNF1B gene.@*CONCLUSION@#The diagnosis of 17q12 microdeletion may be difficult during fetal period for its variable phenotypes. Alterations of chromosomal copy numbers need to be excluded in such patients.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Fenótipo
/
Cromossomos Humanos Par 17
/
Testes Genéticos
/
Deleção Cromossômica
/
Fator 1-beta Nuclear de Hepatócito
/
Variações do Número de Cópias de DNA
/
Feto
/
Genética
Tipo de estudo:
Estudo prognóstico
Limite:
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2020
Tipo de documento:
Artigo
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