Complex X chromosome rearrangement delineated by array comparative genome hybridization in a woman with premature ovarian insufficiency  

Oleh:

Ochalski, Melanie E. ; Engle, Natalie ; Wakim, Anthony ; Ravnan, Britt J.

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: Fertility and Sterility (keterangan: ada di ClinicalKey) vol. 95 no. 07 (Jun. 2011), page 2433e9-15.
Topik: Premature ovarian insufficiency; complex chromosomal rearrangements; X chromosome aberration; amenorrhea

Ketersediaan

Perpustakaan FK Nomor Panggil: F02.K.2011.04 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

Lihat Detail Induk

Isi artikel

Objective To investigate candidate genes affected by a complex X chromosome rearrangement that may play a role in the diagnosis of spontaneous premature ovarian insufficiency (POI). Design Prospective cytogenetic analysis, fluorescence in situ hybridization (FISH) analysis and oligonucleotide array comparative genome hybridization (CGH). Setting University medical center. Patient(s) A 36-year-old woman with POI found to have a highly rearrangement X chromosome. Intervention(s) FISH analysis and oligonucleotide array CGH. Main Outcome Measure(s) Oligonucleotide microarray analysis to detect duplicated, deleted, or translocated regions of the X chromosome. Result(s) Complex rearrangement of the X chromosome involving =12 breakpoints resulting in two deletions, four duplications, and several intrachromosomal translocations. At least 13 genes with possible relevance to POI may be affected by the rearrangement. Conclusion(s) Array CGH can reveal candidate genes that may have essential roles in fertility and POI.

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