Prenatal diagnosis of a fetus with Phelan-McDermid syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 841-843, 2019.
Article
in Chinese
| WPRIM
| ID: wpr-776792
ABSTRACT
OBJECTIVE@#To diagnose a fetus with Phelan-McDermid syndrome (PMS) using various techniques.@*METHODS@#Single nucleotide polymorphism array (SNP Array), multiplex ligation-dependent probe amplification (MLPA), fluorescence in situ hybridization (FISH) were applied in conjunction for the prenatal diagnosis of the fetus.@*RESULTS@#SNP Array detected a 4.03 Mb microdeletion at 22q13.31q13.33 in the fetus, which was confirmed by FISH and MLPA. FISH analysis of the parents suggested that the 22q13.31q13.33 deletion has a de novo origin.@*CONCLUSION@#Combined use of various techniques can enable accurate prenatal diagnosis and genetic counseling.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Prenatal Diagnosis
/
Chromosomes, Human, Pair 22
/
Chromosome Deletion
/
In Situ Hybridization, Fluorescence
/
Chromosome Disorders
/
Diagnosis
/
Fetus
Type of study:
Diagnostic study
Limits:
Female
/
Humans
/
Pregnancy
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2019
Type:
Article
Similar
MEDLINE
...
LILACS
LIS