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
Dong Z, Jiang L, Yang C, Hu H, Wang X, Chen H, et al. A robust approach for blind detection of balanced chromosomal rearrangements with whole-genome low-coverage sequencing. Hum Mutat 2014;35:625–36.Web of ScienceCrossrefPubMedGoogle Scholar
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
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
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
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
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
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
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
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.