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
em 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.Palavras-chave
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Síndrome de Turner
/
Cromossomos Humanos Y
Limite:
Adolescent
/
Adult
/
Child
/
Female
/
Humans
Idioma:
En
Revista:
Cytogenet Genome Res
Assunto da revista:
GENETICA
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
Estados Unidos