A genome wide screen for copy number alterations in an adolescent pilot cohort with müllerian anomalies

We sought to characterize whether pathogenic copy number changes were associated with different classes of mullerian anomalies in a cohort of adolescent females. No pathogenic copy number changes were observed.


Jaclyn B. Murry, B.Sc., Xiomara M. Santos, M.D., Xiaoling Wang, M.Sc., Ying-Wooi Wan, Ph.D., Ignatia B. Van den Veyver, M.D., Jennifer E. Dietrich, M.D., M.Sc.

Volume 103, Issue 2, Pages 487-493



To examine whether pathogenic copy number changes (CNCs) can be identified in deoxyribonucleic acid from females with different classes of müllerian anomalies.


We conducted array-based copy number variant (CNV) analysis using an oligonucleotide array from deoxyribonucleic acid in 12 adolescent females with various müllerian anomalies.


University-affiliated tertiary care institution.


Twenty adolescent females with clinically confirmed müllerian anomalies.


Array-based CNV analysis.

Main Outcome Measure(s):

Copy number changes and/or regions with absence of heterozygosity.


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.


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.

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