INHERITED CHONDRODYSPLASIA PUNCTATA DUE TO A DELETION OF THE TERMINAL SHORT ARM OF AN X-CHROMOSOME

被引:173
作者
CURRY, CJR
MAGENIS, RE
BROWN, M
LANMAN, JT
TSAI, J
OLAGUE, P
GOODFELLOW, P
MOHANDAS, T
BERGNER, EA
SHAPIRO, LJ
机构
[1] VALLEY CHILDRENS HOSP,DEPT CYTOGENET,FRESNO,CA 93703
[2] IMPERIAL CANC RES FUND,LONDON,ENGLAND
[3] UNIV CALIF SAN FRANCISCO,MED EDUC PROGRAM,FRESNO,CA
[4] OREGON HLTH SCI UNIV,DEPT MED GENET,PORTLAND,OR 97201
[5] OREGON HLTH SCI UNIV,DEPT CYTOGENET,PORTLAND,OR 97201
[6] UNIV CALIF LOS ANGELES,LOS ANGELES CTY HARBOR MED CTR,DEPT PEDIAT,TORRANCE,CA 90509
关键词
D O I
10.1056/NEJM198410183111603
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:1010 / 1015
页数:6
相关论文
共 28 条
  • [1] Y-TO-X-CHROMOSOME TRANSLOCATION OBSERVED IN 2 GENERATIONS
    AKESSON, HO
    HAGBERG, B
    WAHLSTROM, J
    [J]. HUMAN GENETICS, 1980, 55 (01) : 39 - 42
  • [2] ALLDERDICE PW, 1983, 34TH ANN M AM SOC HU
  • [3] INCREASED CHOLESTEROL SULFATE IN PLASMA AND RED-BLOOD-CELL MEMBRANES OF STEROID SULFATASE DEFICIENT PATIENTS
    BERGNER, EA
    SHAPIRO, LJ
    [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1981, 53 (01) : 221 - 223
  • [4] X-Y TRANSLOCATION IN A RETARDED PHENOTYPIC MALE - CLINICAL, CYTOGENETIC, BIOCHEMICAL, AND SERO-GENETIC STUDIES
    BERNSTEIN, R
    WAGNER, J
    ISDALE, J
    NURSE, GT
    LANE, AB
    JENKINS, T
    [J]. JOURNAL OF MEDICAL GENETICS, 1978, 15 (06) : 466 - 474
  • [5] FERGUSONSMITH MA, 1982, CYTOGENET CELL GENET, V32, P273
  • [6] QUANTITATIVE-ANALYSIS OF HIGH-RESOLUTION TRYPSIN-GIEMSA BANDS ON HUMAN PROMETAPHASE CHROMOSOMES
    FRANCKE, U
    OLIVER, N
    [J]. HUMAN GENETICS, 1978, 45 (02) : 137 - 165
  • [7] CHONDRODYSPLASIA PUNCTATA - RHIZOMELIC FORM - PATHOLOGIC AND RADIOLOGIC STUDIES OF 3 INFANTS
    GILBERT, EF
    OPITZ, JM
    SPRANGER, JW
    LANGER, LO
    WOLFSON, JJ
    VISESKUL, C
    [J]. EUROPEAN JOURNAL OF PEDIATRICS, 1976, 123 (02) : 89 - 109
  • [8] GENETIC-EVIDENCE THAT A Y-LINKED GENE IN MAN IS HOMOLOGOUS TO A GENE ON THE X-CHROMOSOME
    GOODFELLOW, P
    BANTING, G
    SHEER, D
    ROPERS, HH
    CAINE, A
    FERGUSONSMITH, MA
    POVEY, S
    VOSS, R
    [J]. NATURE, 1983, 302 (5906) : 346 - 349
  • [9] A HUMAN X-LINKED ANTIGEN DEFINED BY A MONOCLONAL ANTIBODY
    GOODFELLOW, P
    BANTING, G
    LEVY, R
    POVEY, S
    MCMICHAEL, A
    [J]. SOMATIC CELL GENETICS, 1980, 6 (06): : 777 - 787
  • [10] MATERNAL AND FETAL SEQUELAE OF ANTICOAGULATION DURING PREGNANCY
    HALL, JG
    PAULI, RM
    WILSON, KM
    [J]. AMERICAN JOURNAL OF MEDICINE, 1980, 68 (01) : 122 - 140