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.
Article
in Chinese
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Prenatal Diagnosis
/
Research
/
Chromosomes, Human, X
/
Comparative Genomic Hybridization
/
Genetic Counseling
/
Genetics
/
Karyotyping
Type of study:
Diagnostic study
Limits:
Female
/
Humans
/
Pregnancy
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2020
Type:
Article
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