INVERTED DUPLICATION OF 22PTER-]Q11.21 IN CAT-EYE SYNDROME

被引：7
|
作者：
HOO, JJ
ROBERTSON, A
FOWLOW, SB
BOWEN, P
LIN, CC
机构：
[1] UNIV CALGARY,DEPT PEDIAT,DIV MED GENET,CALGARY T2N 1N4,ALBERTA,CANADA
[2] UNIV ALBERTA,DEPT PEDIAT,DIV MED GENET,EDMONTON T6G 2E1,ALBERTA,CANADA
[3] UNIV ALBERTA,DEPT PATHOL,EDMONTON T6G 2E1,ALBERTA,CANADA
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS | 1986年 / 24卷 / 03期
关键词：
D O I：
10.1002/ajmg.1320240320
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：543 / 545
页数：3
相关论文
共 50 条
  • [41] BISATELLITED DICENTRIC CHROMOSOME - A REPORT ON A CASE WITH KARYOTYPE 47,XY,+PSUDIC(22)T(22-22)(22PTER-]CEN-]22Q11-22Q11-]22PTER)
    GONG, WL
    YANG, A
    FEI, HB
    LIU, SM
    YAN, J
    HUMAN GENETICS, 1982, 61 (04) : 325 - 328
  • [42] CASE OF PARTIAL TRISOMY 22 WITHOUT CAT-EYE STIGMATA
    KADOTANI, T
    KATANO, T
    YAMAOKA, H
    MURAKAMI, M
    NAKAMOTO, Y
    WATANABE, Y
    PROCEEDINGS OF THE JAPAN ACADEMY SERIES B-PHYSICAL AND BIOLOGICAL SCIENCES, 1978, 54 (05): : 217 - 221
  • [43] THE GENE FOR HUMAN CATECHOL-O-METHYLTRANSFERASE (COMT) MAPS TO 22PTER-]22Q11.1
    GROSSMAN, MH
    LITTRELL, J
    WEINSTEIN, R
    PUNNETT, HH
    EMANUEL, BS
    BUDARF, M
    CYTOGENETICS AND CELL GENETICS, 1991, 58 (3-4): : 2048 - 2048
  • [44] FURTHER DELINEATION OF SUPERNUMERARY CHROMOSOME IN CAT-EYE SYNDROME
    TOOMEY, KE
    MOHANDAS, T
    LEISTI, J
    SZALAY, G
    KABACK, MM
    CLINICAL GENETICS, 1977, 12 (05) : 275 - 284
  • [45] CAT-EYE SYNDROME - CLINICAL AND CYTOGENETICAL DIFFERENTIAL DIAGNOSIS
    KUNZE, J
    TOLKSDORF, M
    WIEDEMANN, HR
    HUMANGENETIK, 1975, 26 (04): : 271 - 289
  • [46] Cat-eye syndrome with isolated idiopathic hypogonadotropic hypogonadism
    Matsumoto, R
    Shimizu, C
    Nagai, S
    Taniguchi, S
    Umetsu, M
    Kimura, Y
    Atsumi, T
    Yoshioka, N
    Kubo, M
    Koike, T
    INTERNAL MEDICINE, 2005, 44 (10) : 1069 - 1073
  • [47] SILVER STAINING OF THE SUPERNUMERARY CHROMOSOME IN THE CAT-EYE SYNDROME
    PETIT, P
    GODART, S
    FRYNS, JP
    ANNALES DE GENETIQUE, 1980, 23 (02): : 114 - 116
  • [48] Partial Tetrasomy of Chromosome 22q11.1 Resulting from a Supernumerary Isodicentric Marker Chromosome in a Boy with Cat-eye Syndrome
    Ko, Jung Min
    Kim, Jun Bum
    Pai, Ki Soo
    Yun, Jun-No
    Park, Sang-Jin
    JOURNAL OF KOREAN MEDICAL SCIENCE, 2010, 25 (12) : 1798 - 1801
  • [49] PSEUDOISODICENTRIC BISATELLITED EXTRA MARKER CHROMOSOME (TETRASOMY 22PTER-]Q11, TRISOMY YQH), DERIVED FROM A MATERNAL Y/22 TRANSLOCATION - ASSOCIATION BETWEEN THIS TETRASOMY AND CAT EYE PHENOTYPICAL FEATURES
    GABARRON, J
    GLOVER, G
    JIMENEZ, A
    LAMATA, E
    CLINICAL GENETICS, 1985, 28 (06) : 509 - 515
  • [50] Chromosome 22q11.21 duplication in a patient with congenital heart defect
    Munno, Carmen
    Verdesca, Francesco
    Vitale, Andrea
    Lombardo, Barbara
    Pastore, Lucio
    BIOCHIMICA CLINICA, 2015, 39 (04) : E1 - E3
12345