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Successful birth with preimplantation genetic diagnosis using single-cell allele-specific PCR and sequencing in a woman with hypochondroplasia due to FGFR3 mutation (c.1620C>A, p.N540K)

  • Park, Kyung Eui;Kim, Sung Ah;Kang, Moon Joo;Kim, Hee Sun;Cho, Sung Im;Yoo, Kyoung Won;Kim, So Yeon;Lee, Hye Jun;Oh, Sun Kyung;Seong, Moon-Woo;Ku, Seung-Yup;Jun, Jong Kwan;Park, Sung Sup;Choi, Young Min;Moon, Shin Yong
    • Clinical and Experimental Reproductive Medicine
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    • v.40 no.1
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    • pp.42-46
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    • 2013

  • Hypochondroplasia (HCH) is an autosomal dominant inherited skeletal dysplasia, usually caused by a heterozygous mutation in the fibroblast growth factor receptor 3 gene (FGFR3). A 27-year-old HCH woman with a history of two consecutive abortions of HCH-affected fetuses visited our clinic for preimplantation genetic diagnosis (PGD). We confirmed the mutation in the proband (FGFR3:c.1620C>A, p.N540K), and established a nested allele-specific PCR and sequence analysis for PGD using single lymphocyte cells. We performed this molecular genetic analysis to detect the presence of mutation among 20 blastomeres from 18 different embryos, and selected 9 embryos with the wild-type sequence (FGFR3:c.1620C). A successful pregnancy was achieved through a frozen-thawed cycle and resulted in the full-term birth of a normal neonate. To the best of our knowledge, this is the first report of a successful pregnancy and birth using single-cell allele-specific PCR and sequencing for PGD in an HCH patient.

  • https://doi.org/10.5653/cerm.2013.40.1.42 인용 PDF KSCI

Primary Extraskeletal Osteosarcoma in the Anterior Mediastinum: A Case Report and Review

  • Joo, Seohee;Song, Jae Won;Na, Kwon Joong;Park, Samina;Park, In Kyu;Kim, Young Tae;Kang, Chang Hyun
    • Journal of Chest Surgery
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    • v.52 no.4
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    • pp.243-246
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    • 2019

  • Extraskeletal osteosarcoma (ESOS) is a malignant soft tissue neoplasm producing osteoid, without any continuity with the bone or periosteum. Primary ESOS presenting in the mediastinum is an extremely rare, yet aggressive malignant tumor associated with a poor prognosis. We report a case of primary ESOS arising from the thymus in a 63-year-old male patient.

  • https://doi.org/10.5090/kjtcs.2019.52.4.243 인용 PDF KSCI