Advance in research on microdeletion/microduplications at Xp22.3 / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 584-587, 2020.
Artigo
em Chinês
| WPRIM
| ID: wpr-826527
ABSTRACT
With the application of BACs-on-Beads (BoBs) and array-comparative genome hybridization (aCGH) technologies in prenatal diagnosis, microdeletion/microduplications at Xp22.3 have been frequently detected. However, the relatively high prevalence and lack of knowledge of such disorders have brought difficulties for clinical genetic counseling. Here, recent progress of research on microdeletion/microduplications at Xp22.3, including epidemiology, pathogenesis, clinical manifestation, and prenatal diagnosis, is reviewed.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Diagnóstico Pré-Natal
/
Pesquisa
/
Cromossomos Humanos X
/
Hibridização Genômica Comparativa
/
Aconselhamento Genético
/
Genética
/
Cariotipagem
Tipo de estudo:
Estudo diagnóstico
Limite:
Feminino
/
Humanos
/
Gravidez
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2020
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS