DOUBLE AUTOSOMAL/GONOSOMAL MOSAIC ANEUPLOIDY - STUDY OF NONDISJUNCTION IN 2 CASES WITH TRISOMY OF CHROMOSOME-8

被引:0
作者
DEBRASI, D
GENUARDI, M
DAGOSTINO, A
CALVIERI, F
TOZZI, C
VARRONE, S
NERI, G
机构
[1] UNIV NAPLES FEDERICO II, FAC MED & CHIRURG, SERV SPECIALE CITOGENET, NAPLES, ITALY
[2] UNIV NAPLES FEDERICO II, FAC MED & CHIRURG, CEINGE, NAPLES, ITALY
[3] UNIV CATTOLICA SACRO CUORE, FAC MED & CHIRURG, IST GENET MED, I-00168 ROME, ITALY
[4] OSPED SAN GIOVANNI BELLINZONA, CITOGENET LAB, ROME, ITALY
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Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We report cytogenetic and molecular investigations performed in two cases of mosaic trisomy 8 combined with mosaic sex chromosome aneuploidy. In a 35-year-old female, presenting with short stature, gonadal dysgenesis, and a multiple congenital anomalies/mental retardation syndrome typical of trisomy 8, chromosome analysis from peripheral lymphocytes showed the presence of three cell lines, whose karyotypes were 45,X (59.2%), 46,X,+8 (1.2%), and 47,XX,+8 (39.6%), respectively. The same cell lines were found in a skin fibroblast culture, though in different proportions. The second patient, a 9-month-old male with multiple skeletal abnormalities, showed a 47,XY,+8 and a 47,XXY cell line in both peripheral lymphocytes (61.7% and 38.3%, respectively) and skin fibroblasts (92.8% and 7.2%, respectively). To determine the events underlying the origin of these complex karyotypes we performed Southern blot and polymerase chain reaction (PCR) analysis using polymorphic DNA markers from the X chromosome and from chromosome 8. Both supernumerary chromosomes 8, and, in case 2, the two X chromosomes, appeared to be identical, lacking detectable recombination events. We conclude that, in both cases, the most likely mechanism underlying the origin of the mosaic cell lines was formation of a normal zygote, followed by mitotic errors during early divisions.
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页码:519 / 525
页数:7
相关论文
共 27 条
  • [1] MITOTIC ERRORS IN SOMATIC-CELLS CAUSE TRISOMY-21 IN ABOUT 4.5-PERCENT OF CASES AND ARE NOT ASSOCIATED WITH ADVANCED MATERNAL AGE
    ANTONARAKIS, SE
    AVRAMOPOULOS, D
    BLOUIN, JL
    TALBOT, CC
    SCHINZEL, AA
    [J]. NATURE GENETICS, 1993, 3 (02) : 146 - 150
  • [2] PARENTAL ORIGIN OF THE EXTRA CHROMOSOME IN TRISOMY-21 AS INDICATED BY ANALYSIS OF DNA POLYMORPHISMS
    ANTONARAKIS, SE
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 1991, 324 (13) : 872 - 876
  • [3] ANTONARAKIS SE, 1992, AM J HUM GENET, V50, P544
  • [4] BOUE A, 1978, PREVENTION FETAL MAL, P49
  • [5] TRISOMY-8 - REPORT OF A MOSAIC HUMAN MALE WITH NEAR-NORMAL PHENOTYPE AND NORMAL IQ, ASCERTAINED THROUGH INFERTILITY
    CHANDLEY, AC
    HARGREAVE, TB
    FLETCHER, JM
    SOOS, M
    AXWORTHY, D
    PRICE, WH
    [J]. HUMAN GENETICS, 1980, 55 (01) : 31 - 38
  • [6] FEENER CA, 1991, AM J HUM GENET, V48, P621
  • [7] A TECHNIQUE FOR RADIOLABELING DNA RESTRICTION ENDONUCLEASE FRAGMENTS TO HIGH SPECIFIC ACTIVITY
    FEINBERG, AP
    VOGELSTEIN, B
    [J]. ANALYTICAL BIOCHEMISTRY, 1983, 132 (01) : 6 - 13
  • [8] GAFTER U, 1976, CLIN GENET, V9, P134
  • [9] DINUCLEOTIDE REPEAT POLYMORPHISM AT THE CRH GENE
    GU, J
    SADLER, L
    DAIGER, S
    WELLS, D
    WAGNER, M
    [J]. HUMAN MOLECULAR GENETICS, 1993, 2 (01) : 85 - 85
  • [10] CHROMOSOME-ABNORMALITIES IN HUMAN REPRODUCTIVE WASTAGE
    HASSOLD, TJ
    [J]. TRENDS IN GENETICS, 1986, 2 (04) : 105 - 110