title: A genome-wide screen for copy number alterations in an adolescent pilot cohort with müllerian anomalies.
abstract: OBJECTIVE
  To examine whether pathogenic copy number changes (CNCs) can be identified in deoxyribonucleic acid from females with different classes of müllerian anomalies.
  
  
  METHODS
  We conducted array-based copy number variant (CNV) analysis using an oligonucleotide array from deoxyribonucleic acid in 12 adolescent females with various müllerian anomalies.
  
  
  METHODS
  University-affiliated tertiary care institution.
  
  
  METHODS
  Twenty adolescent females with clinically confirmed müllerian anomalies.
  
  
  METHODS
  Array-based CNV analysis.
  
  
  METHODS
  Copy number changes and/or regions with absence of heterozygosity.
  
  
  RESULTS
  A total of 192 CNVs identified in these samples were previously annotated as polymorphic. Three CNCs that were identified in regions with minimal to no overlap with annotated polymorphisms failed significance criteria with detailed inspection. One subject harbored a 5.1-Mb region of absence of heterozygosity at Xq23 that is of unknown significance.
  
  
  CONCLUSIONS
  We did not identify pathogenic CNCs in this small pilot cohort of patients with various müllerian anomalies, but larger studies will be needed to further investigate whether CNCs are associated with all classes of müllerian anomalies.
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
authors.forename: Jaclyn B
authors.initials: JB
authors.lastname: Murry
authors.affiliation: Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas.
authors.forename: Xiomara M
authors.initials: XM
authors.lastname: Santos
authors.affiliation: Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas.
authors.forename: Xiaoling
authors.initials: X
authors.lastname: Wang
authors.affiliation: Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas.
authors.forename: Ying-Wooi
authors.initials: YW
authors.lastname: Wan
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas; Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, Texas.
authors.forename: Ignatia B
authors.initials: IB
authors.lastname: Van den Veyver
authors.affiliation: Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas; Department of Pediatrics, Baylor College of Medicine, Houston, Texas. Electronic address: jedietri@texaschildrens.org.
authors.forename: Jennifer E
authors.initials: JE
authors.lastname: Dietrich
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D015331:Cohort Studies; D056915:DNA Copy Number Variations / Q000235:genetics*; D005260:Female; D055106:Genome-Wide Association Study / Q000379:methods*; D006801:Humans; D009095:Mullerian Ducts / Q000002:abnormalities* / Q000502:physiology*; D010865:Pilot Projects; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D055815:Young Adult
keywords: Müllerian anomalies; absence of heterozygosity; array-based copy number analysis; copy-number change