Mosaic tetrasomy 8p associated with mild phenotype

被引：0
|
作者：
Ivankov, A. [1 ]
Bobinec, A. [1 ]
Rogac, M. [2 ]
Sansovic, I. [1 ]
Barisi, I. [1 ]
机构：
[1] Univ Zagreb, Sch Med, Childrens Hosp Zagreb, Zagreb, Croatia
[2] Univ Med Ctr Ljubljana, Clin Inst Med Genet, Ljubljana, Slovenia
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2018年 / 26卷
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：
P11.074B
引用
收藏
页码：485 / 485
页数：1
相关论文
共 50 条
  • [1] Prenatal diagnosis of mosaic tetrasomy 8p
    Le Bris, MJ
    Marcorelles, P
    Audrézet, MP
    Parent, P
    Heren, P
    Le Guern, H
    Herry, A
    Morel, F
    Collet, M
    Férec, C
    De Braekeleer, M
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2003, 120A (01): : 44 - 48
  • [2] Mild Phenotype in a Patient With Mosaic del(8p)/inv dup del(8p)
    Hand, Matthew
    Gray, Carolyn
    Glew, Gwen
    Tsuchiya, Karen D.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (11) : 2827 - 2831
  • [3] Agenesis of the corpus callosum in mosaic tetrasomy 8p
    Wilson, Brian T.
    Harikumar, Chidambara
    Fisher, Richard B.
    CLINICAL DYSMORPHOLOGY, 2010, 19 (04) : 215 - 217
  • [4] Agenesis of the corpus callosum in mosaic tetrasomy 8p
    Wilson, Brian
    Harikumar, C.
    Fisher, R. B.
    JOURNAL OF MEDICAL GENETICS, 2010, 47 : S54 - S54
  • [5] MOSAIC TETRASOMY 8P - CASE-REPORT AND REVIEW OF THE LITERATURE
    WINTERS, J
    MARKELLO, T
    NANCE, W
    JACKSONCOOK, C
    CLINICAL GENETICS, 1995, 48 (04) : 195 - 198
  • [6] MOSAIC TETRASOMY FOR THE SHORT ARM OF CHROMOSOME-8 IN A PATIENT WITH AN ADDITIONAL I(8P)
    WINTERS, J
    MARKELLO, T
    NANCE, W
    JACKSONCOOK, C
    AMERICAN JOURNAL OF HUMAN GENETICS, 1993, 53 (03) : 628 - 628
  • [7] MOSAIC TETRASOMY 8P IN 2 PATIENTS - CLINICAL-DATA AND REVIEW OF THE LITERATURE
    SCHRANDERSTUMPEL, CTRM
    GOVAERTS, CP
    ENGELEN, JJM
    VANDERBLIJPHILIPSEN, M
    BORGHGRAEF, M
    LOOTS, WJG
    PETERS, JJM
    RIJNVOS, WPM
    SMEETS, DFCM
    FRYNS, JP
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1994, 50 (04): : 377 - 380
  • [8] Complex congenital heart malformations in mosaic tetrasomy 8p: Case report and review of the literature
    Napoleone, RM
    Varela, M
    Andersson, HC
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1997, 73 (03): : 330 - 333
  • [9] MOSAIC TETRASOMY-8P
    NEWTON, D
    HAMMOND, L
    WILEY, J
    KUSHNICK, T
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1993, 46 (05): : 513 - 516
  • [10] Prenatal diagnosis of a mosaic supernumerary marker iso (8p) (tetrasomy 8p): discordance between chorionic villi culture and amniotic fluid karyotypes
    Nucaro, Anna Lisa
    Rossino, Rossano
    Pruna, Dario
    Rassu, Stefania
    Cianchetti, Carlo
    Cao, Antonio
    Moi, Paolo
    PRENATAL DIAGNOSIS, 2006, 26 (05) : 418 - 419
12345