Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci.
Hum Reprod
; 25(10): 2637-46, 2010 Oct.
Article
in En
| MEDLINE
| ID: mdl-20685758
ABSTRACT
BACKGROUND:
XY gonadal dysgenesis (XY-GD) is a heterogeneous disorder characterized by failure of testicular development despite a normal male karyotype. Non-syndromic and syndromic forms can be delineated. Currently, only a minority of cases can be explained by gene mutations.METHODS:
The aim of this study was to detect microdeletions and duplications by using high-resolution Agilent oligonucleotide arrays in a cohort of 87 patients with syndromic or non-syndromic 46,XY-GD.RESULTS:
In 26 patients, we identified gains or losses in regions including genes involved in XY-GD (DMRT1, SOX9, DAX1) or in regions, which have not been described as polymorphic copy number variants (CNVs).CONCLUSIONS:
This study shows that array comparative genomic hybridization (CGH) analysis is a useful tool for the molecular diagnosis of XY-GD as well as for the identification of potential candidate genes involved in male sexual development.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Oligonucleotide Array Sequence Analysis
/
Genetic Loci
/
Gonadal Dysgenesis, 46,XY
Type of study:
Diagnostic_studies
/
Etiology_studies
/
Evaluation_studies
/
Incidence_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Limits:
Adolescent
/
Adult
/
Aged
/
Aged80
/
Child
/
Female
/
Humans
/
Male
/
Middle aged
Language:
En
Journal:
Hum Reprod
Journal subject:
MEDICINA REPRODUTIVA
Year:
2010
Document type:
Article
Affiliation country:
Alemania