Advanced search
Publication Cover
International Journal of Women's Health Volume 16, 2024 - Issue
Submit an article Journal homepage
81
Views
0
CrossRef citations to date
0
Altmetric
CASE REPORT

Genetic Analysis of a Mosaic Fra(16)(q22)/Del(16)(q22) Karyotype in a Primary Infertile Woman

Guiyuan He1 Centre for Reproductive and Genetic Medicine, Dalian Women and Children’s Medical Group, Dalian, People’s Republic of ChinaORCID Iconhttps://orcid.org/0000-0002-8176-7937View further author information
ORCID Icon,
Xi Wang1 Centre for Reproductive and Genetic Medicine, Dalian Women and Children’s Medical Group, Dalian, People’s Republic of ChinaView further author information
,
Beiqing Li1 Centre for Reproductive and Genetic Medicine, Dalian Women and Children’s Medical Group, Dalian, People’s Republic of ChinaView further author information
,
Lei Wang1 Centre for Reproductive and Genetic Medicine, Dalian Women and Children’s Medical Group, Dalian, People’s Republic of ChinaView further author information
,
Jing Zhang2 Department of Clinical Laboratory, Central Hospital of Dalian University of Technology, Dalian Municipal Central Hospital, Dalian, People’s Republic of ChinaView further author information
,
Yang Shi1 Centre for Reproductive and Genetic Medicine, Dalian Women and Children’s Medical Group, Dalian, People’s Republic of ChinaORCID Iconhttps://orcid.org/0000-0001-9133-2403View further author information
ORCID Icon,
Wenxiu Zhu1 Centre for Reproductive and Genetic Medicine, Dalian Women and Children’s Medical Group, Dalian, People’s Republic of ChinaView further author information
&
Ming Shi1 Centre for Reproductive and Genetic Medicine, Dalian Women and Children’s Medical Group, Dalian, People’s Republic of China;3 Department of Clinical Laboratory, Dalian Women and Children’s Medical Group, Dalian, People’s Republic of ChinaCorrespondence[email protected]
View further author information
 show all
Pages 637-644 | Received 01 Dec 2023, Accepted 29 Mar 2024, Published online: 16 Apr 2024

References

  • Lukusa T, Fryns JP. Human chromosome fragility. Biochim Biophys Acta. 2008;1779(1):3–16. doi:10.1016/j.bbagrm.2007.10.005
  • Kumar R, Nagpal G, Kumar V, et al. HumCFS: a database of fragile sites in human chromosomes. BMC Genomics. 2019;19(Suppl 9):985–992. doi:10.1186/s12864-018-5330-5
  • Dekaban A. Persisting clone of cells with an abnormal chromosome in a woman previously irradiated. J Nucl Med. 1965;6(10):740–746. PMID:5837920.
  • Mulligan LM, Phillips MA, Forster-Gibson CJ, et al. Genetic mapping of DNA segments relative to the locus for the fragile-X syndrome at Xq27.3. Am J Hum Genet. 1985;37(3):463–472. PMID:2988332.
  • Goonewardena P, Gustavson KH, Holmgren G, et al. Analysis of fragile X-mental retardation families using flanking polymorphic DNA probes. Clin Genet. 1986;30(4):249–254. doi:10.1111/j.1399-0004.1986.tb00604.x
  • Zlotorynski E, Rahat A, Skaug J, et al. Molecular basis for expression of common and rare fragile sites. Mol Cell Biol. 2003;23(20):7143–7151. doi:10.1128/MCB.23.20.7143-7151.2003
  • Mirceta M, Shum N, Schmidt MHM, Pearson CE. Fragile sites, chromosomal lesions, tandem repeats, and disease. Front Genet. 2022;13:985975. doi:10.3389/fgene.2022.985975
  • Debacker K, Kooy RF. Fragile sites and human disease. Hum Mol Genet. 2007;16(2):150–158. doi:10.1093/hmg/ddm136
  • Yu S, Mangelsdorf M, Hewett D, et al. Human chromosomal fragile site FRA16B is an amplified AT-rich minisatellite repeat. Cell. 1997;88(3):367–374. doi:10.1016/s0092-8674(00)81875-9
  • Schmid M, Feichtinger W, Jessberger A, Köhler J, Lange R. The fragile site (16)(q22). I. Induction by AT-specific DNA-ligands and population frequency. Hum Genet. 1986;74(1):67–73. doi:10.1007/BF00278788
  • Takahashi E, Hori T, Murata M. Population cytogenetics of rare fragile sites in Japan. Hum Genet. 1988;78(2):121–126. doi:10.1007/BF00278179
  • Hocking T, Feichtinger W, Schmid M, et al. Homozygotes for FRA16B are normal. Chromosome Res. 1999;7(7):553–556. doi:10.1023/a:1009293613064
  • Glasser L, Meloni-Ehrig A, Joseph P, Mendiola J. Benign chronic neutropenia with abnormalities involving 16q22, affecting mother and daughter. Am J Hematol. 2006;81(4):262–270. doi:10.1002/ajh.20550
  • Murata M, Takahashi E, Ishihara T, et al. Heritable fragile sites and cancer: fra(16)(q22) in lymphocytes of an acute nonlymphocytic leukemia patient with inv(16)(p13q22). Cancer Genet Cytogenet. 1987;25(1):81–86. doi:10.1016/0165-4608(87)90162-2
  • García-Sagredo JM, San Román C, Gallego Gómez ME, Lledo G. Fragile chromosome 16(q22) cause a balanced translocation at the same point. Hum Genet. 1983;65(2):211–213. doi:10.1007/BF00286668
  • McGowan-Jordan J, Hastings RJ, Moore S. ISCN 2020: an international system for human cytogenomic nomenclature; 2020. Available from: https://www.karger.com/Book/Home/279152. Accessed April 01, 2024.
  • Wu K, Zhang X, Li F, et al. Frequent alterations in cytoskeleton remodelling genes in primary and metastatic lung adenocarcinomas. Nat Commun. 2015;6:10131. doi:10.1038/ncomms10131
  • Schmid M, Feichtinger W, Haaf T. The fragile site (16)(q22). II. Sister chromatid exchanges. Hum Genet. 1987;76(4):365–368. doi:10.1007/BF00272446
  • Morgan WF, Crossen PE. The frequency and distribution of sister chromatid exchanges in human chromosomes. Hum Genet. 1977;38(3):271–278. doi:10.1007/BF00402152
  • Tucker JD, Christensen ML, Strout CL, Carrano AV. Determination of the baseline sister chromatid exchange frequency in human and mouse peripheral lymphocytes using monoclonal antibodies and very low doses of bromodeoxyuridine. Cytogenet Cell Genet. 1986;43(1–2):38–42. doi:10.1159/000132295
  • Martorell MR, Martínez-Pasarell O, Lopez O, et al. Chromosome 16 abnormalities in embryos and in sperm from a male with a fragile site at 16q22.1. Cytogenet Genome Res. 2014;142(2):134–139. doi:10.1159/000357411
  • Luo K, Lan Y, Xie P, et al. Next-generation sequencing analysis of embryos from mosaic patients undergoing in vitro fertilization and preimplantation genetic testing. Fertil Steril. 2019;112(2):291–297. doi:10.1016/j.fertnstert.2019.03.035

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.