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Clinical Chemistry and Laboratory Medicine (CCLM)

Published in Association with the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM)

Editor-in-Chief: Plebani, Mario

Ed. by Gillery, Philippe / Greaves, Ronda / Lackner, Karl J. / Lippi, Giuseppe / Melichar, Bohuslav / Payne, Deborah A. / Schlattmann, Peter


IMPACT FACTOR 2018: 3.638

CiteScore 2018: 2.44

SCImago Journal Rank (SJR) 2018: 1.191
Source Normalized Impact per Paper (SNIP) 2018: 1.205

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1437-4331
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The first report showing de novo partial 21q monosomy in an adult woman with occult primary ovarian insufficiency (POI)

Jian Zeng
  • Center for Molecular Diagnosis of Genetic Diseases, Dongfang Hospital, Xiamen University Medical College, Fuzhou, P.R. China
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Wujian Huang
  • Center for Reproductive Medicine, Dongfang Hospital, Xiamen University Medical College, Fuzhou, P.R. China
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Mingyan Huang
  • Center for Molecular Diagnosis of Genetic Diseases, Dongfang Hospital, Xiamen University Medical College, Fuzhou, P.R. China
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Zhihong Wang
  • Corresponding author
  • Center for Molecular Diagnosis of Genetic Diseases, Dongfang Hospital, Xiamen University Medical College, 156 Xi’erhuanbei Road, Fuzhou City, Fujian Province 350025, P.R. China, Phone/Fax: +8659183721105
  • Email
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
Published Online: 2019-02-04 | DOI: https://doi.org/10.1515/cclm-2018-1271

References

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    Karimov CB, Moragianni VA, Cronister A, Srouji S, Petrozza J, Racowsky C, et al. Increased frequency of occult fragile X-associated primary ovarian insufficiency in infertile women with evidence of impaired ovarian function. Hum Reprod 2011;26:2077–83.PubMedWeb of ScienceCrossrefGoogle Scholar

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    Fortuño C, Labarta E. Genetics of primary ovarian insufficiency: a review. J Assist Reprod Genet 2014;31:1573–85.CrossrefWeb of SciencePubMedGoogle Scholar

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    Seneca S, Lissens W, Endels K, Caljon B, Bonduelle M, Keymolen K, et al. Reliable and sensitive detection of fragile X (expanded) alleles in clinical prenatal DNA samples with a fast turnaround time. J Mol Diagn 2012;14:560–8.PubMedWeb of ScienceCrossrefGoogle Scholar

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    Wakui K, Toyoda A, Kubota T, Hidaka E, Ishikawa M, Katsuyama T, et al. Familial 14-Mb deletion at 21q11.2-q21.3 and variable phenotypic expression. J Hum Genet 2002;47:511–6.PubMedCrossrefGoogle Scholar

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    Lindstrand A, Malmgren H, Sahlén S, Schoumans J, Nordgren A, Ergander U, et al. Detailed molecular and clinical characterization of three patients with 21q deletions. Clin Genet 2010;77:145–54.PubMedWeb of ScienceCrossrefGoogle Scholar

  • 7.

    Roberson ED, Wohler ES, Hoover-Fong JE, Lisi E, Stevens EL, Thomas GH, et al. Genomic analysis of partial 21q monosomies with variable phenotypes. Eur J Hum Genet 2011;19:235–8.CrossrefWeb of SciencePubMedGoogle Scholar

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    Petit F, Plessis G, Decamp M, Cuisset JM, Blyth M, Pendlebury M, et al. 21q21 deletion involving NCAM2: report of 3 cases with neurodevelopmental disorders. Eur J Med Genet 2015;58:44–6.CrossrefWeb of SciencePubMedGoogle Scholar

  • 9.

    Errichiello E, Novara F, Cremante A, Verri A, Galli J, Fazzi E, et al. Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature. Mol Cytogenet 2016;9:21–30.CrossrefPubMedWeb of ScienceGoogle Scholar

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    Bera TK, Zimonjic DB, Popescu NC, Sathyanarayana BK, Lee B, Pastan I. POTE, a highly homologous gene family located on numerous chromosomes and expressed in prostate, ovary, testis, placenta, and prostate cancer. Proc Natl Acad Sci USA 2002;99:16975–80.CrossrefGoogle Scholar

About the article

Received: 2018-08-30

Accepted: 2019-01-09

Published Online: 2019-02-04


Funding Source: Natural Science Foundation of Fujian Province

Award identifier / Grant number: 2018J01230

Natural Science Foundation of Fujian Province (Funder Id: 10.13039/501100003392) 2018J01230.


Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.

Employment or leadership: None declared.

Honorarium: None declared.

Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.


Citation Information: Clinical Chemistry and Laboratory Medicine (CCLM), 20181271, ISSN (Online) 1437-4331, ISSN (Print) 1434-6621, DOI: https://doi.org/10.1515/cclm-2018-1271.

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