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

Long Ching Kuan; Mei Tsz Su; Chin Ming Wu; Ming Chen; Pao Lin Kuo; Tsung Cheng Kuo

doi:10.1016/j.fertnstert.2011.04.061

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

Long Ching Kuan, Mei Tsz Su, Chin Ming Wu, Ming Chen, Pao Lin Kuo, Tsung Cheng Kuo

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Pages (from-to)	e29-e34
Journal	Fertility and Sterility
Volume	96
Issue number	1
DOIs	https://doi.org/10.1016/j.fertnstert.2011.04.061
Publication status	Published - 2011 Jul

All Science Journal Classification (ASJC) codes

Reproductive Medicine
Obstetrics and Gynaecology

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10.1016/j.fertnstert.2011.04.061

Cite this

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title = "A family with Xq22.3q25 interstitial deletion and normal ovarian function",

abstract = "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.",

author = "Kuan, {Long Ching} and Su, {Mei Tsz} and Wu, {Chin Ming} and Ming Chen and Kuo, {Pao Lin} and Kuo, {Tsung Cheng}",

note = "Funding Information: Supported by the Department of medical education, Kuo General Hospital , Tainan, Taiwan. ",

year = "2011",

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T1 - A family with Xq22.3q25 interstitial deletion and normal ovarian function

AU - Kuan, Long Ching

AU - Su, Mei Tsz

AU - Wu, Chin Ming

AU - Chen, Ming

AU - Kuo, Pao Lin

AU - Kuo, Tsung Cheng

N1 - Funding Information: Supported by the Department of medical education, Kuo General Hospital , Tainan, Taiwan.

PY - 2011/7

Y1 - 2011/7

N2 - 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.

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

Abstract

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