CONFERENCE REPORT - 1ST INTERNATIONAL SCIENTIFIC WORKSHOP ON PRADER-WILLI SYNDROME AND OTHER CHROMOSOME 15Q DELETION DISORDERS

被引:7
|
作者
CASSIDY, SB [1 ]
机构
[1] UNIV ARIZONA,COLL MED,STEELE MEM CHILDRENS RES CTR,TUCSON,AZ 85724
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 42卷 / 02期
关键词
PRADER-WILLI SYNDROME; ANGELMAN SYNDROME; CHROMOSOME DELETION; 15Q DELETION; GENETIC IMPRINTING; DISOMY; CONTIGUOUS GENE SYNDROME; GROWTH HORMONE; SLEEP DISORDER; DIAGNOSTIC CRITERIA;
D O I
10.1002/ajmg.1320420221
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:220 / 230
页数:11
相关论文
共 50 条
  • [21] Expanded Prader-Willi Syndrome Due to Chromosome 15q11.2-14 Deletion: Report and a Review of Literature
    Liu, Anthony P. Y.
    Tang, Wing Fai
    Lau, Elizabeth T.
    Chan, Kelvin Y. K.
    Kan, Anita S. Y.
    Wong, Kar Yin
    Tso, Winnie W. Y.
    Jalal, Khair
    Lee, So Lun
    Chau, Christy S. K.
    Chung, Brian H. Y.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2013, 161A (06) : 1309 - 1318
  • [22] Molecular and clinical characterization of two patients with Prader-Willi syndrome and atypical deletions of proximal chromosome 15q
    Calounova, Gabriela
    Hedvicakova, Petra
    Silhanova, Eva
    Kreckova, Gabriela
    Sedlacek, Zdenek
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2008, 146A (15) : 1955 - 1962
  • [23] Few phenotypic differences between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15.
    Cassidy, SB
    Forsythe, M
    Heeger, S
    Nicholls, R
    Swartz, S
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1996, 64 (04): : 6 - 6
  • [24] THE ETIOLOGY OF THE PRADER-WILLI SYNDROME - AN HYPOTHESIS BASED ON THE VARIATION IN PROXIMAL 15Q PATHOLOGY
    MASCARELLO, JT
    JONES, MC
    DIXSON, B
    CLINICAL RESEARCH, 1983, 31 (01): : A110 - A110
  • [25] DELETION OF 15Q IN 2 PATIENTS WITH NON-PRADER-WILLI SYNDROME PHENOTYPES
    JONES, J
    NEVIN, NC
    JOURNAL OF MEDICAL GENETICS, 1988, 25 (09) : 642 - 643
  • [26] Molecular characterization of a unique de novo 15q deletion associated with Prader-Willi syndrome and central visual impairment
    Windpassinger, C
    Petek, E
    Wagner, K
    Langmann, A
    Buiting, K
    Kroisel, PM
    CLINICAL GENETICS, 2003, 63 (04) : 297 - 302
  • [27] DELETIONS OF PROXIMAL 15Q AND NON-CLASSICAL PRADER-WILLI SYNDROME PHENOTYPES
    SCHWARTZ, S
    MAX, SR
    PANNY, SR
    COHEN, MM
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1985, 20 (02): : 255 - 263
  • [28] PROXIMAL 15Q VARIANT AS POSSIBLE PITFALL IN THE CYTOGENETIC DIAGNOSIS OF PRADER-WILLI SYNDROME
    HOO, JJ
    CHAO, MC
    SAMUEL, IP
    MORGAN, AM
    CLINICAL GENETICS, 1990, 37 (03) : 161 - 166
  • [29] 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
  • [30] THE PRADER-WILLI SYNDROME AND INTERSTITIAL DELETION OF CHROMOSOME 15 - HIGH-RESOLUTION CHROMOSOME ANALYSES OF 14 PATIENTS WITH THE PRADER-WILLI SYNDROME AND OF 5 SUSPECTED INFANTS
    FUKUSHIMA, Y
    NIIKAWA, N
    KUROKI, Y
    JAPANESE JOURNAL OF HUMAN GENETICS, 1984, 29 (01): : 1 - 6