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.
Artículo
en Chino
| 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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Diagnóstico Prenatal
/
Investigación
/
Cromosomas Humanos X
/
Hibridación Genómica Comparativa
/
Asesoramiento Genético
/
Genética
/
Cariotipificación
Tipo de estudio:
Estudio diagnóstico
Límite:
Femenino
/
Humanos
/
Embarazo
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2020
Tipo del documento:
Artículo
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