Rett syndrome in a boy with a 47,XXY karyotype

被引:25
作者
Schwartzman, JS
Zatz, M [1 ]
Vasques, LD
Gomes, RR
Koiffmann, CP
Fridman, C
Otto, PG
机构
[1] Univ Sao Paulo, Inst Biociencias, Dept Biol, Ctr Estud Genoma Humano, BR-05508900 Sao Paulo, Brazil
[2] Univ Mackenzie, Sao Paulo, Brazil
关键词
D O I
10.1086/302424
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:1781 / 1785
页数:5
相关论文
共 45 条
  • [1] ALEMBIK Y, 1995, GENET COUNSEL, V6, P207
  • [2] ALLEN RC, 1992, AM J HUM GENET, V51, P1229
  • [3] ARCHIDIACONO N, 1991, HUM GENET, V86, P604
  • [4] X chromosome inactivation in 30 girls with Rett syndrome: Analysis using the probe
    Camus, P
    Abbadi, N
    Perrier, MC
    Chery, M
    Gilgenkrantz, S
    [J]. HUMAN GENETICS, 1996, 97 (02) : 247 - 250
  • [5] MALE RETT VARIANT
    CHRISTEN, HJ
    HANEFELD, F
    [J]. NEUROPEDIATRICS, 1995, 26 (02) : 81 - 82
  • [6] IS CLASSICAL RETT SYNDROME EVER PRESENT IN MALES
    COLEMAN, M
    [J]. BRAIN & DEVELOPMENT, 1990, 12 (01) : 31 - 32
  • [7] Functional Xp disomy and de novo t(X;13)(q10;q10) in a girl with hypomelanosis of Ito
    CorreaCerro, LS
    Rivera, H
    Vasquez, AI
    [J]. JOURNAL OF MEDICAL GENETICS, 1997, 34 (02) : 161 - 163
  • [8] A PARTIAL DELETION OF THE MUSCULAR-DYSTROPHY GENE TRANSMITTED TWICE BY AN UNAFFECTED MALE
    DARRAS, BT
    FRANCKE, U
    [J]. NATURE, 1987, 329 (6139) : 556 - 558
  • [9] EASTHAUGH P, 1996, WORLD C RETT SYNDR G
  • [10] GENETIC-VARIATION AT 5 TRIMERIC AND TETRAMERIC TANDEM REPEAT LOCI IN 4 HUMAN-POPULATION GROUPS
    EDWARDS, A
    HAMMOND, HA
    JIN, L
    CASKEY, CT
    CHAKRABORTY, R
    [J]. GENOMICS, 1992, 12 (02) : 241 - 253