Hypomelanosis of Ito and X;autosome translocations: A unifying hypothesis

被引:38
作者
Hatchwell, E
机构
[1] Wessex Regional Genetics Service, Level G, Princess Anne Hospital, Southampton SO16 5YA, Coxford Road
关键词
hypomelanosis of Ito; X; autosome translocation; functional disomy Xp;
D O I
10.1136/jmg.33.3.177
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Hypomelanosis of Ito is a sporadic multisystem disorder known to be associated in many cases with chromosomal mosaicism. While no particular pattern is generally evident for the specific chromosomes involved in such patients, a subgroup of female patients exists in whom the common factor is the presence of a balanced, constitutional X;autosome translocation, with a cytogenetic breakpoint in the pericentromeric region of the X. It is argued here that the phenotype in these cases results not from the interruption of X linked genes but from the presence of mosaic functional disomy of X sequences above the breakpoint.
引用
收藏
页码:177 / 183
页数:7
相关论文
共 62 条
  • [1] THE LOWE OCULOCEREBRORENAL SYNDROME GENE ENCODES A PROTEIN HIGHLY HOMOLOGOUS TO INOSITOL POLYPHOSPHATE-5-PHOSPHATASE
    ATTREE, O
    OLIVOS, IM
    OKABE, I
    BAILEY, LC
    NELSON, DL
    LEWIS, RA
    MCINNES, RR
    NUSSBAUM, RL
    [J]. NATURE, 1992, 358 (6383) : 239 - 242
  • [2] A DOSAGE SENSITIVE LOCUS AT CHROMOSOME XP21 IS INVOLVED IN MALE TO FEMALE SEX REVERSAL
    BARDONI, B
    ZANARIA, E
    GUIOLI, S
    FLORIDIA, G
    WORLEY, KC
    TONINI, G
    FERRANTE, E
    CHIUMELLO, G
    MCCABE, ERB
    FRACCARO, M
    ZUFFARDI, O
    CAMERINO, G
    [J]. NATURE GENETICS, 1994, 7 (04) : 497 - 501
  • [3] FEMALE PHENOTYPE AND MULTIPLE ABNORMALITIES IN SIBS WITH A Y-CHROMOSOME AND PARTIAL X-CHROMOSOME DUPLICATION - H-Y-ANTIGEN AND XG BLOOD-GROUP FINDINGS
    BERNSTEIN, R
    JENKINS, T
    DAWSON, B
    WAGNER, J
    DEWALD, G
    KOO, GC
    WACHTEL, SS
    [J]. JOURNAL OF MEDICAL GENETICS, 1980, 17 (04) : 291 - 300
  • [4] BITOUN P, 1992, ANN GENET-PARIS, V35, P51
  • [5] BOYD Y, 1991, MOL GENETICS NEUROLO
  • [6] CANNIZZARO LA, 1987, CLIN GENET, V32, P66
  • [7] CARPENTER NJ, 1983, CYTOGENETICS MAMMA B, V3, P211
  • [8] ISOLATION OF A CANDIDATE GENE FOR MENKES DISEASE THAT ENCODES A POTENTIAL HEAVY-METAL BINDING-PROTEIN
    CHELLY, J
    TUMER, Z
    TONNESEN, T
    PETTERSON, A
    ISHIKAWABRUSH, Y
    TOMMERUP, N
    HORN, N
    MONACO, AP
    [J]. NATURE GENETICS, 1993, 3 (01) : 14 - 19
  • [9] PROTEUS SYNDROME - CLINICAL-EVIDENCE FOR SOMATIC MOSAICISM AND SELECTIVE REVIEW
    COHEN, MM
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1993, 47 (05): : 645 - 652
  • [10] MENTAL-RETARDATION AND ULLRICH-TURNER SYNDROME IN CASES WITH 45,X/46,X,+MAR - ADDITIONAL SUPPORT FOR THE LOSS OF THE X-INACTIVATION CENTER HYPOTHESIS
    COLE, H
    HUANG, B
    SALBERT, BA
    BROWN, J
    HOWARDPEEBLES, PN
    BLACK, SH
    DORFMANN, A
    FEBLES, OR
    STEVENS, CA
    JACKSONCOOK, C
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1994, 52 (02): : 136 - 145