MOVING SATELLITES AND UNSTABLE CHROMOSOME TRANSLOCATIONS - CLINICAL AND CYTOGENETIC IMPLICATIONS

被引:22
作者
FARRELL, SA [1 ]
WINSOR, EJT [1 ]
MARKOVIC, VD [1 ]
机构
[1] TORONTO HOSP, DEPT PATHOL, CYTOGENET LAB, SURREY PL CTR, TORONTO, ON, CANADA
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1993年 / 46卷 / 06期
关键词
CHROMOSOME POLYMORPHISM; CHROMOSOME SATELLITE; CHROMOSOME SHORT ARM; MOSAICISM; UNSTABLE TRANSLOCATION;
D O I
10.1002/ajmg.1320460624
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We describe 2 families in which acrocentric short arm material moved from one chromosome to another. In case 1, a meiotic event resulted in movement of an unusually large paternal 21p to chromosome 13 in the fetus. In case 2, a mitotic event resulted in fetal mosaicism. The short arm material from a paternal chromosome 15 moved to chromosome 14 in some of the fetal cells. Movement of acrocentric short arm material resulted from breakage and exchange in centromeric areas of repetitive DNA. We suggest the mechanism may be similar to that of previously reported ''jumping'' translocations. Failure to recognize movement of the short arms of acrocentric chromosomes can result in erroneous interpretation of prenatal cytogenetic results and of other cytogenetic assays dependent on acrocentric short arm polymorphisms. (C) 1993 Wiley-Liss, Inc.
引用
收藏
页码:715 / 720
页数:6
相关论文
共 37 条
  • [1] DENOVO PARTIAL MONOSOMY 21 WITH UNUSUAL KARYOTYPE
    ALAWADI, SA
    NAGUIB, KK
    TEEBI, AS
    SUNDARESHAN, TS
    [J]. JAPANESE JOURNAL OF HUMAN GENETICS, 1986, 31 (01): : 45 - 48
  • [2] ANDERSON CE, 1979, AM J HUM GENET, V31, pA87
  • [3] DOWNS-SYNDROME ASSOCIATED WITH 2 ROBERTSONIAN TRANSLOCATIONS, 45,XX,-15,-21,+T(15Q21Q) AND 46,XX,-21,+T(21Q21Q)
    ATKINS, L
    BARTSOCAS, CS
    [J]. JOURNAL OF MEDICAL GENETICS, 1974, 11 (03) : 306 - 309
  • [4] HOMOLOGOUS ALPHA-SATELLITE SEQUENCES ON HUMAN ACROCENTRIC CHROMOSOMES WITH SELECTIVITY FOR CHROMOSOMES 13, 14 AND 21 - IMPLICATIONS FOR RECOMBINATION BETWEEN NONHOMOLOGUES AND ROBERTSONIAN TRANSLOCATIONS
    CHOO, KH
    VISSEL, B
    BROWN, R
    FILBY, RG
    EARLE, E
    [J]. NUCLEIC ACIDS RESEARCH, 1988, 16 (04) : 1273 - 1283
  • [5] AN UNUSUAL CASE OF MOSAIC DOWNS-SYNDROME INVOLVING 2 DIFFERENT ROBERTSONIAN TRANSLOCATIONS
    CLARKE, MJ
    THOMSON, DAG
    GRIFFITHS, MJ
    BISSENDEN, JG
    AUKETT, A
    WATT, JL
    [J]. JOURNAL OF MEDICAL GENETICS, 1989, 26 (03) : 198 - 201
  • [6] COOPER HL, 1962, AM J HUM GENET, V14, P107
  • [7] DRAKE V J, 1985, American Journal of Human Genetics, V37, pA91
  • [8] OBSERVATIONS ON SATELLITED HUMAN CHROMOSOMES
    FERGUS.MA
    HANDMAKER, SD
    [J]. LANCET, 1961, 1 (717) : 638 - +
  • [9] FERGUSONSMITH MA, 1973, CHROMOSOMES TODAY, V4, P235
  • [10] JUMPING SATELLITES IN 3 GENERATIONS - WARNING FOR PATERNITY TESTS AND PRENATAL DIAGNOSIS
    GIMELLI, G
    PORRO, E
    SANTI, F
    SCAPPATICCI, S
    ZUFFARDI, O
    [J]. HUMAN GENETICS, 1976, 34 (03) : 315 - 318