FAMILIAL T(11 13) (Q21 Q14) AND THE DUPLICATION 11Q, 13Q PHENOTYPE

被引：17
|
作者：
PARK, JP
MCDERMET, MK
DOODY, AM
MARINPADILLA, JM
MOESCHLER, JB
WURSTERHILL, DH
机构：
[1] DARTMOUTH COLL,HITCHCOCK MED CTR,DEPT PATHOL,HANOVER,NH 03756
[2] DARTMOUTH COLL,HITCHCOCK MED CTR,CTR CLIN GENET & CHILD DEV,HANOVER,NH 03756
[3] DARTMOUTH COLL,DEPT BIOL SCI,HANOVER,NH 03755
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS | 1993年 / 45卷 / 01期
关键词：
CHROMOSOME; CYTOGENETIC; DUP(11Q); DUP(13Q); NEURAL TUBE DEFECTS; TRANSLOCATION;
D O I：
10.1002/ajmg.1320450113
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Cases of duplication of distal 11q or proximal 13q have been reported independently. A specific translocation resulting in duplication of distal 11q, [der(22)t(11;22)(q23;q11)], has been documented in over 40 cases. We report on a male fetus with chromosomal excess of both distal 11q and proximal 13q resulting from a familial translocation. This case supports the causal association of duplication 11q with neural tube defects.
引用
收藏
页码：46 / 48
页数：3
相关论文
共 50 条
  • [1] DENOVO DUPLICATION 13Q (46,XX,DUP(13)(Q21 -] Q333))
    FRACCARO, M
    HUMAN GENETICS, 1981, 58 (04) : 444 - 444
  • [2] Familial interstitial duplication of 11q; Partial trisomy (11)(q13.5q21)
    Yelavarthi, KK
    Zunich, J
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2004, 126A (04) : 423 - 426
  • [3] The novel t(11;12;18)(q21;q13;q21) represents a variant translocation of the t(11;18)(q21;q21) associated with MALT-type lymphoma
    J Dierlamm
    EM Murga Penas
    M Daibata
    H Tagushi
    K Hinz
    M Baens
    J Cools
    G Schilling
    L Michaux
    P Marynen
    I Miyoshi
    DK Hossfeld
    Leukemia, 2002, 16 : 1863 - 1864
  • [4] The novel t(11;12;18)(q21;q13;q21) represents a variant translocation of the t(11;18)(q21;q21) associated with MALT-type lymphoma
    Dierlamm, J
    Penas, EMM
    Daibata, M
    Tagushi, H
    Hinz, K
    Baens, M
    Cools, J
    Schilling, G
    Michaux, L
    Marynen, P
    Miyoshi, I
    Hossfeld, DK
    LEUKEMIA, 2002, 16 (09) : 1863 - 1864
  • [5] A RECOGNIZABLE PHENOTYPE IN A CHILD WITH PARTIAL DUPLICATION 13Q IN A FAMILY WITH T(10Q-13Q)
    HORNSTEIN, L
    SOUKUP, S
    CLINICAL GENETICS, 1981, 19 (02) : 81 - 86
  • [6] CYTOGENETIC T(11 17)(Q13 Q21) IN A PEDIATRIC EPENDYMOMA - IS 11Q13 A RECURRING BREAKPOINT IN EPENDYMOMAS
    SAINATI, L
    MONTALDI, A
    PUTTI, MC
    GIANGASPERO, F
    RIGOBELLO, L
    STELLA, M
    ZANESCO, L
    BASSO, G
    CANCER GENETICS AND CYTOGENETICS, 1992, 59 (02) : 213 - 216
  • [7] Partial trisomy 11q syndrome (11q23.1→11qter) due to de novot (11q;13q) detected by multicolor fluorescence in situ hybridisation
    Utine, GE
    Thoelen, R
    Peeters, H
    Vermeesch, J
    Fryns, JP
    GENETIC COUNSELING, 2005, 16 (03): : 291 - 295
  • [8] A new translocation t(11;13)(q13;q14) in a mature B-cell neoplasm
    Solé, F
    Salido, M
    Espinet, B
    Zamora, L
    Berlanga, J
    Domingo, A
    HAEMATOLOGICA, 2002, 87 (07) : 777 - 778
  • [9] A translocation t(4;13)(q21;q14) as single clonal chromosomal abnormality in a parathyroid adenoma
    Sammarelli, Gabriella
    Zannoni, Marco
    Bonomini, Sabrina
    Delsignore, Roberto
    Rizzoli, Vittorio
    Sianesi, Mario
    Caramatti, Cecilia
    TUMORI, 2007, 93 (01) : 97 - 99
  • [10] A Triple-Hit Follicular Lymphoma with t(3;22)(q27;q11),t(11;14)(q13;q32),t(14;18)(q32;q21)
    Koduru, P.
    Fuda, F.
    JOURNAL OF MOLECULAR DIAGNOSTICS, 2013, 15 (06): : 862 - 862
12345