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

Oleh:

Murry, Jaclyn B. ; Santos, Xiomara M. ; Xiaoling, Wang ; Ying-Wooi, Wan

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: Fertility and Sterility (keterangan: ada di ClinicalKey) vol. 103 no. 02 (Feb. 2015), page 487-493.
Topik: Müllerian anomalies; copy-number change; array-based copy number analysis; absence of heterozygosity

Ketersediaan

Perpustakaan FK Nomor Panggil: F02.K Non-tandon: tidak ada Tandon: 1

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Isi artikel

Objective To examine whether pathogenic copy number changes (CNCs) can be identified in deoxyribonucleic acid from females with different classes of müllerian anomalies. Design We conducted array-based copy number variant (CNV) analysis using an oligonucleotide array from deoxyribonucleic acid in 12 adolescent females with various müllerian anomalies. Setting University-affiliated tertiary care institution. Patient(s) Twenty adolescent females with clinically confirmed müllerian anomalies. Intervention(s) Array-based CNV analysis. Main Outcome Measure(s) Copy number changes and/or regions with absence of heterozygosity. Result(s) 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. Conclusion(s) 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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