ASIA unversity:Item 310904400/108135
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    題名: Detection of paternal uniparental disomy 9 in a neonate with prenatally detected mosaicism for a small supernumerary marker chromosome 9 and a supernumerary ring chromosome 9
    作者: 陳持平;Chih-Ping Chen;Ming Chen;Liang-Kai Wa;Liang-Kai Wang;Schu-Rern Ch;Schu-Rern Chern;Peih-Shan Wu;Shin-Wen Che;Shin-Wen Chen;Shih-Ting La;Shih-Ting Lai;Shun-Ping Ch;Shun-Ping Chang;Chien-Wen Ya;Chien-Wen Yang;Chen-Wen Pan;Wayseen Wang
    貢獻者: 生物科技學系
    日期: 2017-08
    上傳時間: 2017-10-30 10:40:10 (UTC+8)
    摘要: Objective

    We present the association of paternal uniparental disomy (UPD) 9 with mosaicism for a small supernumerary marker chromosome 9 [sSMC(9)] and a supernumerary ring chromosome 9 [r(9)].
    Materials and methods

    A 38-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XY,+mar [25]/48,XY,+mar,+r(9) [4]/47,XY,+r(9) [1]/46,XY [6]. The parental karyotypes were normal. Array comparative genomic hybridization (aCGH) of cultured amniocytes revealed a result of de novo 9p13.1q21.11 (38,792,472–71,026,063) × 2.64. The marker chromosome was determined to be an sSMC(9) by spectral karyotyping and aCGH. A phenotypically normal baby was delivered at 38 weeks of gestation. During pediatric follow-ups at age two years, the neonate manifested normal psychomotor and growth development. Cytogenetic analysis, metaphase fluorescence in situ hybridization (FISH), single nucleotide polymorphism (SNP) aCGH and polymorphic DNA marker analysis were performed on the peripheral blood of the neonate.

    Results

    The neonate's blood had the following results. Metaphase FISH confirmed coexistence of the sSMC(9) and the supernumerary r(9). The karyotype was 47,XY,+sSMC(9) [14]/48,XY, +sSMC(9),+r(9) [10]/47,XY,+r(9) [6]/46,XY [10]. SNP aCGH revealed arr 9p22.3q21.11 (14,234,165–71,035,608) × 2–3, arr 9p24.3p22.3 (216,123–14,629,321)hmz, arr 9p21.3p13.2 (24,769,722–36,732,597)hmz and arr 9q21.11q34.3 (71,013,799–141,011,581)hmz. Polymorphic DNA marker analysis showed paternal isodisomy 9.
    Conclusion

    Individuals with mosaicism for sSMC(9) and supernumerary r(9) may be associated with paternal UPD 9.

    Keywords
    9p duplication syndromePaternal uniparental disomy 9Small supernumerary marker chromosome 9Supernumerary ring chromosome 9
    關聯: TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY
    顯示於類別:[生物科技學系] 期刊論文

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