Prenatal diagnosis of a fetus with Miller-Dieker syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1280-1282, 2020.
Article
in Chinese
| WPRIM
| ID: wpr-879486
ABSTRACT
OBJECTIVE@#To carry out genetic diagnosis for a fetus.@*METHODS@#Chromosome G-banding and chromosomal microarray analysis (CMA) were carried out for a fetus with abnormal morphology of lateral cerebral fissure.@*RESULTS@#The karyotype of the fetus was normal, but CMA showed that it has carried a 1.4 Mb deletion at 17p13.3 region, which suggested a diagnosis of Miller-Dieker syndrome (MDS).@*CONCLUSION@#Familiarity with clinical features and proper selection of genetic testing method are crucial for the diagnosis of MDS. Attention should be paid to microdeletions and microduplications which can be missed by conventional chromosomal karyotyping.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Prenatal Diagnosis
/
Chromosomes, Human, Pair 17
/
Chromosome Banding
/
Chromosome Deletion
/
Classical Lissencephalies and Subcortical Band Heterotopias
/
Fetus
/
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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