| Crypt Y chromosome fragment resulting from an X;Y translocation in a patient with premature ovarian failure. | |
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MedLine Citation:
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PMID: 19524892 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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OBJECTIVE: To identify a cryptic Y chromosome fragment that resulted from a X;Y translocation in a patient with premature ovarian failure (POF) and analyze the karyotype-phenotype correlation. DESIGN: Case report. SETTING: A university-based reproductive medicine center. PATIENT(S): A 33-year-old woman with POF. INTERVENTION(S): Karyotyping analysis, comparative genomic hybridization, fluorescence in situ hybridization, and polymerase chain reaction (PCR) analysis for the patient. MAIN OUTCOME MEASURE(S): Karyotype determination of the patient. RESULT(S): The patient was suspected to carry an abnormal X chromosome by traditional cytogenetic analysis. A Y chromosome hybridization signal was found in the patient's genome by comparative genomic hybridization analysis. The fluorescence in situ hybridization result showed that the Y chromosome material resulted from a translocation between Xq and Yq. Using the specific sequence-tagged sites, the breakpoints on the X and Y chromosomes were located at Xq26.3 and Yq11.223, respectively. Combined with chromosome G banding and C banding, the karyotype of the patient was determined as 46,X,der(X)t(X;Y) (q26.3;q11.223). CONCLUSION(S): The advanced molecular cytogenetic techniques are helpful to detect cryptic chromosome aberrancies in patients with POF. This rare case supports that Xq26-q28 is the critical region of POF, and is helpful to analyze the risk of gonadoblastoma in patients with POF with Y chromosomal material. |
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Authors:
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De-Hua Cheng; Yue-Qiu Tan; Yu-Fen Di; Lu-Yun Li; Guang-Xiu Lu |
Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2009-06-13 |
Journal Detail:
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Title: Fertility and sterility Volume: 92 ISSN: 1556-5653 ISO Abbreviation: Fertil. Steril. Publication Date: 2009 Aug |
Date Detail:
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Created Date: 2009-08-03 Completed Date: 2009-08-27 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0372772 Medline TA: Fertil Steril Country: United States |
Other Details:
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Languages: eng Pagination: 828.e3-6 Citation Subset: IM |
Affiliation:
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Institute of Reproduction and Stem Cell Engineering, Reproductive and Genetic Hospital of Citic Xiangya, Central South University, Changsha, Peoples Republic of China. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Chromosomes, Human, X / genetics* Chromosomes, Human, Y / genetics* DNA Fragmentation* Female Humans Ovarian Failure, Premature / diagnosis*, genetics* Translocation, Genetic / genetics* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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