Prenatal diagnosis and genetic analysis of a fetus with Miller-Dieker syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 71-73, 2021.
Article
in Chinese
| WPRIM
| ID: wpr-879526
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a fetus with lissencephaly.@*METHODS@#Genomic DNA was extracted from amniotic fluid sample and subjected to copy number variation (CNV) analysis.@*RESULTS@#The fetus was found to harbor a heterozygous 5.2 Mb deletion at 17p13.3p13.2, which encompassed the whole critical region of Miller-Dieker syndrome (MDS) (chr17 1-2 588 909).@*CONCLUSION@#The fetus was diagnosed with MDS. Deletion of the PAFAH1B1 gene may account for the lissencephaly found in the fetus.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Prenatal Diagnosis
/
Chromosomes, Human, Pair 17
/
Genetic Testing
/
Chromosome Deletion
/
1-Alkyl-2-acetylglycerophosphocholine Esterase
/
Classical Lissencephalies and Subcortical Band Heterotopias
/
Fetus
/
Microtubule-Associated Proteins
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Female
/
Humans
/
Pregnancy
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2021
Type:
Article
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