Hidden Y Chromosome Material and Congenital Cardiovascular Malformations in a Cohort of Turner Syndrome Patients with 45,X Blood Karyotype.
Cytogenet Genome Res
; 163(5-6): 290-294, 2023.
Article
in En
| MEDLINE
| ID: mdl-38128492
ABSTRACT
INTRODUCTION:
Bicuspid aortic valve is the most common congenital cardiac malformation (CCM) in adults and is 30-50 times more frequent in Turner syndrome (TS). We hypothesize that both X and Y chromosome dosages contribute to the prevalence of CCM in TS. The recognition of genotype-phenotype correlations may improve risk stratification of patients with 45,X karyotypes who have cryptic Y chromosome mosaicism.METHODS:
Utilizing data and samples from the UTHealth Turner Syndrome Research Registry, we correlated Y chromosome DNA identified by multiplex quantitative PCR and SNP microarrays with the presence of congenital heart lesions.RESULTS:
We identified Y chromosome DNA in more than 10% of registry participants, including 2 participants who had no detectable Y DNA by karyotype or SNP microarray.CONCLUSIONS:
There were no significant correlations between the presence of Y DNA and CCM.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Turner Syndrome
/
Chromosomes, Human, Y
Limits:
Adolescent
/
Adult
/
Child
/
Female
/
Humans
Language:
En
Journal:
Cytogenet Genome Res
Journal subject:
GENETICA
Year:
2023
Document type:
Article
Affiliation country:
Estados Unidos