Genetic analysis of a pedigree with atypical partial 4q trisomy / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1245-1249, 2021.
Article
in Chinese
| WPRIM
| ID: wpr-922034
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with mental retardation.@*METHODS@#G-banded karyotyping analysis and single nucleotide polymorphism microarray (SNP array) were used to detect the genetic variants within the family, and the origin of the variants was analyzed using UPDtool Statistics software.@*RESULTS@#The patient, a 26-year-old female, was found to have a chromosomal karyotype of 46,XX,dup(4)(q28.2q31.3),and SNP array revealed a 25.71 Mb duplication at 4q28.2-q31.3. The duplication was inherited from her father, and her fetus was found to carry the same duplication.@*CONCLUSION@#The duplication of the patient probably underlay the mental retardation. The gender of the carrier and parental origin of the duplication might have led to the variation in their clinical phenotype.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Trisomy
/
Genetic Testing
/
Chromosome Banding
/
Karyotyping
Limits:
Adult
/
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2021
Type:
Article
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