Genetic analysis of a case with 2q37 microdeletion syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 81-84, 2022.
Article
in Chinese
| WPRIM
| ID: wpr-928367
ABSTRACT
OBJECTIVE@#To diagnose and fine map a deletion in chromosome region 2q37.@*METHODS@#G-banded chromosomal karyotyping, multiplex ligation-dependent probe amplification (MLPA), single nucleotide polymorphism array (SNP-array), and fluorescence in situ hybridization (FISH) were carried out in conjunct for the analysis.@*RESULTS@#The patient was found to have karyotype of 46,XY,del(2)(q3?), MLPA revealed one copy number of both CAPN10-3 and ATG4B-7 genes from the 2q37.3 region, Both parents were found to be normal upon chromosome karyotyping and MLPA. SNP-array has found a 9.7 Mb deletion in the 2q37.1.37.3 region. FISH analysis has confirmed there is a single copy for 2q37.3.@*CONCLUSION@#Combination of MLPA, FISH and SNP-array have enabled accurate diagnosis for the patient, and also provided more clues for the correlation of genotype with the phenotype of the disease, and a basis for genetic counseling.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Phenotype
/
Chromosome Banding
/
Chromosome Deletion
/
In Situ Hybridization, Fluorescence
/
Karyotyping
Limits:
Humans
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2022
Type:
Article
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