Detection of chromosome 15 deletion in Prader-Willi syndrome using fluorescence in situ hybridization

被引：0
|
作者：
Suzuki, Y [1 ]
Sasagawa, I [1 ]
Yazawa, H [1 ]
Tateno, T [1 ]
Nakada, T [1 ]
机构：
[1] Yamagata Univ, Sch Med, Dept Urol, Yamagata 9909585, Japan
来源：
ARCHIVES OF ANDROLOGY | 2000年 / 45卷 / 01期
关键词：
chromosome analysis; fluorescence in situ hybridization; Prader-Willi syndrome;
D O I：
暂无
中图分类号：
R69 [泌尿科学（泌尿生殖系疾病）];
学科分类号：
摘要：
Deletion of chromosome 15 was investigated in 6 patients with Prader-Willi syndrome (PWS) using chromsome and fluorescence in situ hybridization (FISH) analysis. Although chromosome analysis using G-banding methods revealed the deletion of 15q11-q13 in only 3 cases, staining by FISH using D15S11 and/or small nuclear ribonucleoprotein polypeptide N (SNRPN) probes detected chromosome 15 deletion in all cases. It would appear that FISH analysis is an effective diagnostic test for the detection of chromosome 15 deletion in patients with PWS.
引用
收藏
页码：13 / 17
页数：5
相关论文
共 50 条
  • [41] PRADER-WILLI SYNDROME WITH 15-15 TRANSLOCATION
    FLEISCHNICK, E
    CONE, TE
    GREER, G
    WOOD, JW
    AMERICAN JOURNAL OF HUMAN GENETICS, 1979, 31 (06) : A94 - A94
  • [42] ORIGIN OF THE 15Q11-12 DELETION IN PRADER-WILLI SYNDROME
    HASEGAWA, T
    YAMADA, K
    KITAZUMI, E
    ENOMOTO, S
    YOKOCHI, A
    IMAIZUMI, T
    OKADA, N
    HIROSE, K
    OSAWA, M
    FUKUYAMA, Y
    AOYAMA, M
    JAPANESE JOURNAL OF HUMAN GENETICS, 1985, 30 (02): : 159 - 160
  • [43] PRADER-WILLI SYNDROME WITH A 15-15 TRANSLOCATION
    HAWKEY, CJ
    SMITHIES, A
    JOURNAL OF MEDICAL GENETICS, 1976, 13 (02) : 152 - 157
  • [44] PRADER-WILLI SYNDROME ASSOCIATED WITH INV(15)
    WINSOR, EJT
    WELCH, JP
    RAFTUS, RA
    AMERICAN JOURNAL OF HUMAN GENETICS, 1982, 34 (06) : A151 - A151
  • [45] A NEUROPATHOLOGICAL STUDY OF A CASE OF THE PRADER-WILLI SYNDROME WITH AN INTERSTITIAL DELETION OF THE PROXIMAL LONG ARM OF CHROMOSOME-15
    HAYASHI, M
    ITOH, M
    KABASAWA, Y
    HAYASHI, H
    SATOH, J
    MORIMATSU, Y
    BRAIN & DEVELOPMENT, 1992, 14 (01): : 58 - 62
  • [46] CLINICAL DIFFERENCES BETWEEN CHROMOSOME 15Q DELETION AND NON DELETION PRADER-WILLI INDIVIDUALS
    BUTLER, MG
    MEANEY, FJ
    KALER, SG
    YU, PL
    PALMER, CG
    AMERICAN JOURNAL OF HUMAN GENETICS, 1982, 34 (06) : A119 - A119
  • [47] Fetal phenotype of Prader-Willi syndrome due to maternal disomy for chromosome 15
    L'Herminé, AC
    Aboura, A
    Brisset, S
    Cuisset, L
    Castaigne, V
    Labrune, P
    Frydman, R
    Tachdjian, G
    PRENATAL DIAGNOSIS, 2003, 23 (11) : 938 - 943
  • [48] Analysis of imprinted genes in subjects with Prader-Willi syndrome and chromosome 15 abnormalities
    Muralidhar, B
    Marney, A
    Butler, MG
    GENETICS IN MEDICINE, 1999, 1 (04) : 141 - 145
  • [49] PRADER-WILLI SYNDROME AND CHROMOSOME-15 - A CLINICAL DISCUSSION OF 20 CASES
    MATTEI, JF
    MATTEI, MG
    GIRAUD, F
    HUMAN GENETICS, 1983, 64 (04) : 356 - 362
  • [50] Birth Seasonality in Prader-Willi Syndrome Resulting From Chromosome 15 Microdeletion
    Ayabe, Tadayuki
    Matsubara, Keiko
    Ogata, Tsutomu
    Ayabe, Atsuko
    Murakami, Nobuyuki
    Nagai, Toshiro
    Fukami, Maki
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2013, 161A (06) : 1495 - 1497
12345