ACROCALLOSAL SYNDROME IN A CHILD WITH DENOVO INVERTED TANDEM DUPLICATION OF 12P11.2 - P13.3

被引：1
|
作者：
PFEIFFER, RA [1 ]
LEGAT, G [1 ]
TRAUTMANN, U [1 ]
机构：
[1] MARIENKRANKENHAUS AMBERG,KINDERKLIN,AMBERG,GERMANY
来源：
ANNALES DE GENETIQUE | 1992年 / 35卷 / 01期
关键词：
ACROCALLOSAL SYNDROME; TANDEM DUPLICATION 12P;
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Report on the child of normal unrelated parents presenting the typical features of acrocallosal syndrome (craniofacial dysmorphy, mental deficiency, convulsive disorder, agenesis of corpus callosum, preaxial polydactyly "hallux duplex" of both feet, and in addition diabetes insipidus) in which a mirror duplication of nearly the entire short arm of chromosome 12 was discovered. Since the symptomatology of trisomy and tetrasomy 12p shows some overlap with acrocallosal syndrome a common origin of the monogenic disorder and the chromosomal phenotypes is discussed.
引用
收藏
页码：41 / 46
页数：6
相关论文
共 50 条
  • [1] 46,XX,t(12;20) (p13.3;p11.2)一例报告
    李庆生
    冯杏林
    [J]. 中华医学遗传学杂志, 1991, (03) : 138 - 138
  • [2] DENOVO INVERTED TANDEM DUPLICATION OF 10P CONFIRMED BY GENE DOSAGE EFFECTS
    SCHWARTZ, S
    VORA, S
    PANNY, SR
    COHEN, MM
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1983, 35 (06) : A153 - A153
  • [3] ACROCALLOSAL SYNDROME AND 12P
    DOCHERTY, Z
    SELLER, MJ
    [J]. ANNALES DE GENETIQUE, 1993, 36 (02): : 136 - 136
  • [4] Acute myeloid leukaemia with t(8;16)(p11.2;p13.3) and erythrophagocytosis
    Rea, Bryan
    Bailey, Nathanael G.
    [J]. BRITISH JOURNAL OF HAEMATOLOGY, 2020, 190 (02) : 133 - 133
  • [5] DENOVO PARTIAL DUPLICATION OF 17P [DUP(17)(P12-]P11.2)] - CLINICAL REPORT
    MAGENIS, RE
    BROWN, MG
    ALLEN, L
    REISS, J
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1986, 24 (03): : 415 - 420
  • [6] INVERTED TANDEM DUPLICATION OF 8P12-]P23-1 IN A CHILD WITH INCREASED ACTIVITY OF GLUTATHIONE-REDUCTASE
    NEVIN, NC
    MORRISON, PJ
    JONES, J
    REID, MM
    [J]. JOURNAL OF MEDICAL GENETICS, 1990, 27 (02) : 135 - 136
  • [7] DENOVO TANDEM DUPLICATION 17P11-]CEN
    DOCHERTY, Z
    HULTEN, MA
    HONEYMAN, MM
    [J]. JOURNAL OF MEDICAL GENETICS, 1983, 20 (02) : 138 - 142
  • [8] TENTATIVE ASSIGNMENT OF A LOCUS FOR RUBINSTEIN-TAYBI SYNDROME TO 16P13.3 BY A DENOVO RECIPROCAL TRANSLOCATION, T(7,16)(Q34,P13.3)
    TOMMERUP, N
    VANDERHAGEN, CB
    HEIBERG, A
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1992, 44 (02): : 237 - 241
  • [9] 17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome
    Girirajan, S.
    Williams, S. R.
    Garbern, J. Y.
    Nowak, N.
    Hatchwell, E.
    Elsea, S. H.
    [J]. CLINICAL GENETICS, 2007, 72 (01) : 47 - 58
  • [10] Two rare cases of acute myeloid leukemia with t(8;16)(p11.2;p13.3) and 1q duplication: case presentation and literature review
    Meng Liu
    Yuan Ren
    Xianfu Wang
    Xianglan Lu
    Ming Li
    Young Mi Kim
    Shibo Li
    Lijun Zhang
    [J]. Molecular Cytogenetics, 13
12345