De novo case of a triplication of 16p

被引:0
|
作者
Skrlec, Ivana [1 ]
Puseljic, Silvija [2 ]
Lovrecic, Luca [3 ]
Peterlin, Borut [3 ]
Wagner, Jasenka [1 ]
机构
[1] JJ Strossmayer Univ Osijek, Med Genet Lab, Fac Med, Dept Med Biol & Genet, Osijek, Croatia
[2] Univ Hosp Osijek, Pediat Clin, Osijek, Croatia
[3] Univ Med Ctr Ljubljana, Clin Inst Med Genet, Ljubljana, Slovenia
关键词
D O I
暂无
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
1.P54
引用
收藏
页码:S61 / S61
页数:1
相关论文
共 50 条
  • [1] De novo trisomy 16p
    Juan, JLC
    Cigudosa, JC
    Gomez, AO
    Almeida, MTA
    Miranda, JLG
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1997, 68 (02): : 219 - 221
  • [2] De novo 16p deletion: ATR-16 syndrome
    Lindor, NM
    Valdes, MG
    Wick, M
    Thibodeau, SN
    Jalal, S
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1997, 72 (04): : 451 - 454
  • [3] Longitudinal report of child with de novo 16p11.2 triplication
    Wallace, Arianne S.
    Hudac, Caitlin M.
    Steinman, Kyle J.
    Peterson, Jessica L.
    DesChamps, Trent D.
    Duyzend, Michael H.
    Nuttle, Xander
    Eichler, Evan E.
    Bernier, Raphael A.
    [J]. CLINICAL CASE REPORTS, 2018, 6 (01): : 147 - 154
  • [4] De novo duplication of chromosome 16p in a female infant with signs of neonatal hemochromatosis
    Schwaibold, Eva Maria Christina
    Bartels, Iris
    Kuester, Helmut
    Lorenz, Michael
    Burfeind, Peter
    Adam, Ronja
    Zoll, Barbara
    [J]. MOLECULAR CYTOGENETICS, 2014, 7
  • [5] De novo duplication of chromosome 16p in a female infant with signs of neonatal hemochromatosis
    Eva Maria Christina Schwaibold
    Iris Bartels
    Helmut Küster
    Michael Lorenz
    Peter Burfeind
    Ronja Adam
    Barbara Zoll
    [J]. Molecular Cytogenetics, 7
  • [6] DE NOVO 7Q DELETION IN A FAMILY WITH 16P DUPLICATION, AUTISM AND DYSLEXIA
    Braathen, G. J.
    Eek, A. K.
    Stornes, R.
    Clausen, K. O.
    [J]. EUROPEAN JOURNAL OF NEUROLOGY, 2011, 18 : 148 - 148
  • [7] Breakpoint mapping of a de novo 15p;16p translocation reveals a candidate gene for autism.
    Martin, CL
    Ilkin, Y
    Powell, C
    Rao, K
    Whichello, A
    Cook, E
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (05) : 325 - 325
  • [8] Fetal intracranial hemorrhage in a case of 16p microdeletion
    Alvarez-de-la-Rosa Rodriguez, Margarita
    Hernandez-Suarez, Mercedes
    Isabel Padilla-Perez, Ana
    Devora-Cabrera, Ylenia
    Plasencia Acevedo, Walter
    [J]. CASE REPORTS IN PERINATAL MEDICINE, 2022, 11 (01)
  • [9] A case of insertional translocation resulting in partial trisomy 16p
    Kokalj-Vokac, N
    Medica, I
    Zagorac, A
    Zagradisnik, B
    Erjavec, A
    Gregoric, A
    [J]. ANNALES DE GENETIQUE, 2000, 43 (3-4): : 131 - 135
  • [10] LIVEBORN PARTIAL TRISOMY 16P
    GLUCKSON, MM
    MCMORROW, LE
    BORNSTEIN, S
    FISCHER, RH
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1983, 35 (06) : A132 - A132