UNIPARENTAL DISOMY FOR CHROMOSOME 6 AND AMBIGUOUS MALE GENITALIA: TWO CASES OF THIS UNUSUAL ASSOCIATION

被引：0
作者：
Lazier, J. [1 ,2 ]
Martins, N. [1 ]
Stavropolous, J. [3 ]
Babul-Hirji, R. [4 ]
Chitayat, D. [1 ,4 ]
机构：
[1] Mt Sinai Hosp, Dept Obstet & Gynaecol, Prenatal Diag & Med Genet Program, Toronto, ON, Canada
[2] Univ Alberta, Dept Med Genet, Edmonton, AB, Canada
[3] Hosp Sick Children, Dept Paediat Lab Med, Toronto, ON, Canada
[4] Univ Toronto, Hosp Sick Children, Dept Paediat, Div Clin & Metab Genet, Toronto, ON, Canada
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2018年 / 176卷 / 06期
关键词：
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：1495 / 1495
页数：1
相关论文
共 50 条
  • [31] Prenatal diagnosis of paternal uniparental disomy for chromosome 2 in two fetuses with intrauterine growth restriction
    Tan, Xuemei
    Liu, Bailing
    Yan, Tizhen
    Wei, Xiaobao
    Qin, Yanfeng
    Zeng, Dingyuan
    Yuan, Dejian
    MOLECULAR CYTOGENETICS, 2023, 16 (01)
  • [32] Partial paternal uniparental disomy of chromosome 6 in monozygotic twins with transient neonatal diabetes mellitus
    Suzuki, Shigeru
    Fujisawa, Daisuke
    Hashimoto, Kazuyuki
    Asano, Tsutomu
    Makita, Yoshio
    Maimaiti, Mireguli
    Matsuo, Kumihiro
    Tanahashi, Yusuke
    Mukai, Tokuo
    Fujieda, Kenji
    HORMONE RESEARCH, 2009, 72 : 423 - 423
  • [33] Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities
    Das, S
    Lese, CM
    Song, M
    Jensen, JL
    Wells, LA
    Barnoski, BL
    Roseberry, JA
    Camacho, JM
    Ledbetter, DH
    Schnur, RE
    AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (06) : 1586 - 1591
  • [34] Prenatal diagnosis of paternal uniparental disomy for chromosome 2 in two fetuses with intrauterine growth restriction
    Xuemei Tan
    Bailing Liu
    Tizhen Yan
    Xiaobao Wei
    Yanfeng Qin
    Dingyuan Zeng
    Dejian Yuan
    Molecular Cytogenetics, 16
  • [35] The maternal uniparental disomy of chromosome 6(upd(6)mat) "phenotype": result of placental trisomy6mosaicism?
    Eggermann, Thomas
    Oehl-Jaschkowitz, Barbara
    Dicks, Severin
    Thomas, Wolfgang
    Kanber, Deniz
    Albrecht, Beate
    Begemann, Matthias
    Kurth, Ingo
    Beygo, Jasmin
    Buiting, Karin
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2017, 5 (06): : 668 - 677
  • [36] A MALE WITH TRISOMY-9 MOSAICISM AND MATERNAL UNIPARENTAL DISOMY FOR CHROMOSOME 9 IN THE EUPLOID CELL-LINE
    WILLATT, LR
    DAVISON, BCC
    GOUDIE, D
    ALEXANDER, J
    DYSON, HM
    JENKS, PE
    FERGUSONSMITH, ME
    JOURNAL OF MEDICAL GENETICS, 1992, 29 (10) : 742 - 744
  • [37] Sporadic occurrence of nondeletion Prader-Willi syndrome in two cases: A female with maternal uniparental disomy and a male with complex chromosomal rearrangement
    Murthy, SK
    AlNassar, KE
    Verghese, L
    NUTRITION, 1995, 11 (05) : 650 - 652
  • [38] Ambiguous genitalia: A spectrum from iatrogenic to genetic disorder, report of two cases
    Savita, Inamdar
    Sameer, Inamdar
    Manish, Patel
    Gupta, Archana
    JOURNAL OF OBSTETRICS AND GYNECOLOGY OF INDIA, 2007, 57 (03) : 265 - 267
  • [39] Uniparental disomy of multiple chromosomes in two cases with a complex phenotype (vol 191, 1978, 2023)
    Polonis, Katarzyna
    Lopes, Jaime L.
    Cabral, Huong
    Babcock, Holly E.
    Kline, Laura
    Ruiz, Kaylee M.
    Schwartz, Stuart
    Grant, Christina L.
    Hasadsri, Linda
    Rowsey, Ross A.
    Hoppman, Nicole L.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2024, 194 (12)
  • [40] Two cases of maternal uniparental disomy 14 with a phenotype overlapping with the Prader-Willi phenotype
    Berends, MJW
    Hordijk, R
    Scheffer, H
    Oosterwijk, JC
    Halley, DJJ
    Sorgedrager, N
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1999, 84 (01): : 76 - 79
12345