The parental origin and chromosomal mechanism for duplication 17p11.2 - the reciprocal recombination product of deletion 17p11.2 associated with Smith-Magenis syndrome.

被引:0
|
作者
Park, SS
Chen, KS
Potocki, L
Lupski, JR
机构
[1] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
[2] Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA
[3] Texas Childrens Hosp, Baylor Coll Med, Houston, TX 77030 USA
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
1997
引用
收藏
页码:A354 / A354
页数:1
相关论文
共 50 条
  • [1] Two patients with duplication of 17p11.2: The reciprocal of the Smith-Magenis syndrome deletion?
    Brown, A
    Phelan, MC
    Patil, S
    Crawford, E
    Rogers, RC
    Schwartz, C
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1996, 63 (02): : 373 - 377
  • [2] Molecular mechanism for duplication 17p11.2 - the homologous recombination reciprocal of the Smith-Magenis microdeletion
    Potocki, L
    Chen, KS
    Park, SS
    Osterholm, DE
    Withers, MA
    Kimonis, V
    Summers, AM
    Meschino, WS
    Anyane-Yeboa, K
    Kashork, CD
    Shaffer, LG
    Lupski, JR
    NATURE GENETICS, 2000, 24 (01) : 84 - 87
  • [3] Molecular mechanism for duplication 17p11.2— the homologous recombination reciprocal of the Smith-Magenis microdeletion
    Lorraine Potocki
    Ken-Shiung Chen
    Sung-Sup Park
    Doreen E. Osterholm
    Marjorie A. Withers
    Virginia Kimonis
    Anne M. Summers
    Wendy S. Meschino
    Kwame Anyane-Yeboa
    Catherine D. Kashork
    Lisa G. Shaffer
    James R. Lupski
    Nature Genetics, 2000, 24 : 84 - 87
  • [4] MOSAICISM FOR DELETION 17P11.2 IN A BOY WITH THE SMITH-MAGENIS SYNDROME
    FINUCANE, BM
    KURTZ, MB
    BABU, VR
    SCOTT, CI
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1993, 45 (04): : 447 - 449
  • [5] A 17p11.2 germline deletion in a patient with Smith-Magenis syndrome and neuroblastoma
    Hienonen, T
    Sammalkorpi, H
    Isohanni, P
    Versteeg, R
    Karikoski, R
    Aaltonen, LA
    JOURNAL OF MEDICAL GENETICS, 2005, 42 (01) : e3
  • [6] Prenatal diagnosis of Smith-Magenis syndrome (del 17p11.2)
    Thomas, DG
    Jacques, SM
    Flore, LA
    Feldman, B
    Evans, MI
    Qureshi, F
    FETAL DIAGNOSIS AND THERAPY, 2000, 15 (06) : 335 - 337
  • [7] Hypoventilation in REM Sleep in a Case of 17p11.2 Deletion (Smith-Magenis Syndrome)
    Leoni, Chiara
    Cesarini, Laura
    Dittoni, Serena
    Battaglia, Domenica
    Novelli, Antonio
    Bernardini, Laura
    Losurdo, Anna
    Vollono, Catello
    Testani, Elisa
    Della Marca, Giacomo
    Zampino, Giuseppe
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (03) : 708 - 712
  • [8] Behavioral phenotype of Smith-Magenis syndrome (del 17p11.2)
    Smith, ACM
    Dykens, E
    Greenberg, F
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1998, 81 (02): : 179 - 185
  • [9] Duplication of 17p11.2: An entity resulting from the homologous recombination of the Smith-Magenis deletion region.
    Deardorff, MA
    Celle, L
    Finkel, R
    Friedman, S
    Spinner, NB
    Zackai, EH
    AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (04) : 137 - 137
  • [10] New developments in Smith-Magenis syndrome (del 17p11.2)
    Gropman, Andrea L.
    Elsea, Sarah
    Duncan, Wallace C., Jr.
    Smith, Ann C. M.
    CURRENT OPINION IN NEUROLOGY, 2007, 20 (02) : 125 - 134