ArticleMolecular and cellular pediatrics2015
Submicroscopic copy-number variations associated with 46,XY disorders of sex development.
Article in Molecular and cellular pediatrics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 16 citations in OpenAlex.
- Refining the diagnosis of 46,XY disorders of sex development: insight from whole-exome sequencing.Orphanet journal of rare diseases · 2026Article
- Review
- A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis withoutInternational journal of molecular sciences · 2022Article
- The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD): I) Physiology, classification, approach, and methodologyII) Biochemical and genetic markers in 46,XX DSD.Advances in laboratory medicine · 2021Review
- The importance of the multiplex ligation-dependent probe amplification in the identification of a novel two-exon deletion of the NR5A1 gene in a patient with 46,XY differences of sex development.Molecular biology reports · 2019Article
- Translating genomics to the clinical diagnosis of disorders/differences of sex development.Current topics in developmental biology · 2019Review
- GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘DSDnet’European journal of endocrinology · 2018Review
- Integrated small copy number variations and epigenome maps of disorders of sex development.Human genome variation · 2016Article
- Article
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2 authors at 2 institutions in 1 country.
Funding
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Abstract
backgroundMutations in known causative genes and cytogenetically detectable chromosomal rearrangements account for a fraction of cases with 46,XY disorders of sex development (DSD). Recent advances in molecular cytogenetic technologies, including array-based comparative genomic hybridization (aCGH) and multiplex ligation-dependent probe amplification (MLPA), have enabled the identification of copy-number variations (CNVs) in individuals with apparently normal karyotypes.
findingsThis review paper summarizes the results of 15 recent studies, in which aCGH or MLPA were used to identify CNVs. Several submicroscopic CNVs have been detected in patients with 46,XY DSD. These CNVs included deletions involving known causative genes such as DMRT1 or NR5A1, duplications involving NR0B1, deletions involving putative cis-regulatory elements of SOX9, and various deletions and duplications of unknown pathogenicity.
conclusionsThe results of recent studies highlight the significance of submicroscopic CNVs as the genetic basis of 46,XY DSD. Molecular cytogenetic analyses should be included in the diagnostic workup of patients with 46,XY DSD of unknown origin. Further studies using aCGH will serve to clarify novel causes of this condition.
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