A family with Xq22.3q25 interstitial deletion and normal ovarian function  

Oleh:

Kuan, Long-Ching ; Su, Mei-Tsz ; Wu, Chin-Ming ; Chen, Ming

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: Fertility and Sterility (keterangan: ada di ClinicalKey) vol. 96 no. 01 (Jul. 2011), page e29-e34.
Topik: X chromosome deletion; premature ovarian failure

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 genomic changes in a family with deletion of X chromosome q22.3-q25 associated with normal constitutional and reproductive phenotypes. Design Case report. Setting Academic district hospital genetic laboratory. Patient(s) A family incidentally found to have deletion of X chromosome q22.3-q25. Intervention(s) Cytogenetic analysis and array-based comparative genomic hybridization for amniotic fluid and peripheral blood lymphocyte of family members. Main Outcome Measure(s) Ovarian function and menstrual cycles. Result(s) The proband and two daughters showed deletion of Xq22.3q25. This region spans 17.4 Mb and contains 121 genes. Conclusion(s) Female subjects with deletion of Xq22.3q25 may present with normal constitutional and reproductive phenotypes.

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