Investigation of a marker chromosome unmasks a de novo cryptic chromosome 22 rearrangement with 22q subtelomere and ARSA duplication

被引：0
|
作者：
Mak-Tam, E [1 ]
Grierson, L [1 ]
Allingham-Hawkins, D [1 ]
Capua, E [1 ]
Johnson, G [1 ]
Kennedy, J [1 ]
Neill, N [1 ]
机构：
[1] N York Gen Hosp, Dept Genet, Toronto, ON, Canada
来源：
AMERICAN JOURNAL OF HUMAN GENETICS | 2003年 / 73卷 / 05期
关键词：
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
2506
引用
收藏
页码：595 / 595
页数：1
相关论文
共 50 条
  • [1] Schizophrenia in a patient with subtelomeric duplication of chromosome 22q
    Failla, P.
    Romano, C.
    Alberti, A.
    Vasta, A.
    Buono, S.
    Castiglia, L.
    Luciano, D.
    Di Benedetto, D.
    Fichera, M.
    Galesi, O.
    CLINICAL GENETICS, 2007, 71 (06) : 599 - 601
  • [2] ANALYSIS OF A DE-NOVO TANDEM DUPLICATION OF DISTAL 22Q
    HARRIS, DJ
    PASZTOR, LM
    CYTOGENETICS AND CELL GENETICS, 1993, 63 (04): : 252 - 252
  • [3] De novo direct duplication of chromosome segment 22q11.2q13.1
    Fujimoto, A
    Lin, MS
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1996, 62 (03): : 300 - 301
  • [4] 46,XX sex reversal with partial duplication of chromosome arm 22q
    Seeherunvong, T
    Perera, EM
    Bao, Y
    Benke, PJ
    Benigno, A
    Donahue, RP
    Berkovitz, GD
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2004, 127A (02) : 149 - 151
  • [5] PARTIAL DUPLICATION OF THE LONG ARM OF CHROMOSOME-22 (22Q 13) WITH COMPLETE 22-TRISOMY PHENOTYPE
    FRYNS, JP
    DEBACKER, D
    LEMLI, L
    PEDERSEN, JC
    VANDENBERGHE, H
    ACTA PAEDIATRICA BELGICA, 1980, 33 (02) : 125 - 127
  • [6] Genetic losses on chromosome 22q in Gists
    Lasota, J
    Wozniak, A
    Kopczynski, J
    Wasag, B
    Sarlomo-Rikala, M
    Lee, JR
    Stachura, J
    Miettinen, M
    LABORATORY INVESTIGATION, 2003, 83 (01) : 16A - 16A
  • [7] Genetic losses on chromosome 22q in GISTs
    Lasota, J
    Wozniak, A
    Kopczynski, J
    Wasag, B
    Sarlomo-Rikala, M
    Lee, JR
    Stachura, J
    Miettinen, M
    MODERN PATHOLOGY, 2003, 16 (01) : 16A - 16A
  • [8] Osteoid osteomas with chromosome alterations involving 22q
    Baruffi, MR
    Volpon, JB
    Neto, JB
    Casartelli, C
    CANCER GENETICS AND CYTOGENETICS, 2001, 124 (02) : 127 - 131
  • [9] A de novo duplication on chromosome 1q22 in a patient presenting with craniosynostosis and psychomotor retardation
    Sowinska-Seidler, A.
    Olech, E.
    Socha, M.
    Jamsheer, A.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 225 - 225
  • [10] Allelic loss on chromosome 22Q in epithelioid sarcomas
    Quezado, MM
    Middleton, LP
    Bryant, B
    Lane, K
    Weiss, SW
    Merino, MJ
    HUMAN PATHOLOGY, 1998, 29 (06) : 604 - 608
12345