Redefining the risks of prenatally ascertained supernumerary marker chromosomes: a collaborative study

被引:39
作者
Graf, M. D.
Christ, L.
Mascarello, J. T.
Mowrey, P.
Pettenati, M.
Stetten, G.
Storto, P.
Surti, U.
Van Dyke, D. L.
Vance, G. H.
Wolff, D.
Schwartz, S.
机构
[1] Dept Human Genet MC0077, Chicago, IL 60637 USA
[2] Case Western Reserve Univ, Ctr Human Genet Lab, Cleveland, OH USA
[3] Case Western Reserve Univ, Dept Genet, Cleveland, OH USA
[4] Childrens Hosp San Diego, San Diego, CA USA
[5] LabCorp, Res Triangle Pk, NC USA
[6] Wake Forest Univ, Sch Med, Winston Salem, NC USA
[7] Johns Hopkins Univ, Sch Med, Baltimore, MD USA
[8] Michigan State Univ, E Lansing, MI 48824 USA
[9] Univ Pittsburgh, Sch Med, Pittsburgh, PA USA
[10] Magee Womens Hosp, Pittsburgh, PA USA
[11] Henry Ford Hosp, Detroit, MI 48202 USA
[12] Indiana Univ, Sch Med, Indianapolis, IN USA
[13] Med Univ S Carolina, Charleston, SC USA
关键词
D O I
10.1136/jmg.2005.037887
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Background: A marker chromosome is defined as a structurally abnormal chromosome that cannot be identified by routine cytogenetics. The risk for phenotypic abnormalities associated with a marker chromosome depends on several factors, including inheritance, mode of ascertainment, chromosomal origin, and the morphology, content, and structure of the marker. Methods: to understand the karyotype-phenotype relationship of prenatally ascertained supernumerary de novo marker chromosomes, we combined data from prenatal cases obtained from 12 laboratories with those from studies in the literature. We were able to obtain cytogenetic and phenotypic data from 108 prenatally ascertained supernumerary de novo marker chromosomes to refine the phenotypic risk associated with these markers. Because of the growing number of cases and because more techniques are available to delineate marker morphology, we have been able to group risk estimates into subcategories, such as by marker type and whether there are ultrasound abnormalities. Results: If a de novo supernumerary marker chromosome is found prenatally, our data suggest there is a 26% risk for phenotypic abnormality when there is no other information defining the marker (such as chromosomal origin or information about the existing phenotype). However, if high resolution ultrasound studies are normal, this risk reduces to 18%. Conclusions: Our findings strongly support the value of additional genetic studies for more precisely defining the risk in individual cases involving marker chromosomes.
引用
收藏
页码:660 / 664
页数:5
相关论文
共 21 条
  • [1] Anderlid BM, 2001, AM J MED GENET, V99, P223, DOI 10.1002/1096-8628(2001)9999:9999<::AID-AJMG1146>3.0.CO
  • [2] 2-W
  • [3] SWEDISH SURVEY ON EXTRA STRUCTURALLY ABNORMAL CHROMOSOMES IN 39105 CONSECUTIVE PRENATAL DIAGNOSES - PREVALENCE AND CHARACTERIZATION BY FLUORESCENCE IN-SITU HYBRIDIZATION
    BLENNOW, E
    BUI, TH
    KRISTOFFERSSON, U
    VUJIC, M
    ANNEREN, G
    HOLMBERG, E
    NORDENSKJOLD, M
    [J]. PRENATAL DIAGNOSIS, 1994, 14 (11) : 1019 - 1028
  • [4] A 10-YEAR SURVEY, 1980-1990, OF PRENATALLY DIAGNOSED SMALL SUPERNUMERARY MARKER CHROMOSOMES, IDENTIFIED BY FISH ANALYSIS - OUTCOME AND FOLLOW-UP OF 14 CASES DIAGNOSED IN A SERIES OF 12 699 PRENATAL SAMPLES
    BRONDUMNIELSEN, K
    MIKKELSEN, M
    [J]. PRENATAL DIAGNOSIS, 1995, 15 (07) : 615 - 619
  • [5] An analphoid supernumerary marker chromosome derived from chromosome 3 ascertained in a fetus with multiple malformations
    Cockwell, AE
    Gibbons, B
    Moore, IE
    Crolla, JA
    [J]. JOURNAL OF MEDICAL GENETICS, 2000, 37 (10) : 807 - 809
  • [6] Crolla JA, 1998, AM J MED GENET, V75, P367, DOI 10.1002/(SICI)1096-8628(19980203)75:4<367::AID-AJMG5>3.0.CO
  • [7] 2-N
  • [8] Prenatal diagnosis of partial tetrasomy 14: a case study
    George, AM
    Hallam, L
    Oei, P
    McGaughran, J
    [J]. PRENATAL DIAGNOSIS, 2002, 22 (02) : 127 - 130
  • [9] GRAF M, 2002, MOL CYTOGENETICS PRO, P211
  • [10] Prenatal diagnosis of a de novo supernumerary marker derived from chromosome 16
    Hengstschläger, M
    Bettelheim, D
    Drahonsky, R
    Deutinger, J
    Bernaschek, G
    [J]. PRENATAL DIAGNOSIS, 2001, 21 (06) : 477 - 480