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.
Artículo
en Chino
| 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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Fenotipo
/
Cromosomas Humanos Par 17
/
Pruebas Genéticas
/
Deleción Cromosómica
/
Factor Nuclear 1-beta del Hepatocito
/
Variaciones en el Número de Copia de ADN
/
Feto
/
Genética
Tipo de estudio:
Estudio pronóstico
Límite:
Humanos
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2020
Tipo del documento:
Artículo
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