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
来源：
AMERICAN JOURNAL OF HUMAN GENETICS | 1999年 / 65卷 / 04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：
1997
引用
收藏
页码：A354 / A354
页数：1
相关论文
共 50 条
  • [41] Phenotype variant of the common duplication at 17p11.2
    Finsterer, Josef
    EUROPEAN NEUROLOGY, 2007, 57 (02) : 114 - 115
  • [42] PRENATAL-DIAGNOSIS OF INTERSTITIAL DELETION OF 17(P11.2P11.2) (SMITH-MAGENIS SYNDROME)
    FAN, YS
    FARRELL, SA
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1994, 49 (02): : 253 - 254
  • [43] The human homologue of the murine Llglh gene (LLGL) maps within the Smith-Magenis syndrome region in 17p11.2
    Koyama, K
    Fukushima, Y
    Inazawa, J
    Tomotsune, D
    Takahashi, N
    Nakamura, Y
    CYTOGENETICS AND CELL GENETICS, 1996, 72 (01): : 78 - 82
  • [44] Review of Disrupted Sleep Patterns in Smith-Magenis Syndrome and Normal Melatonin Secretion in a Patient With an Atypical Interstitial 17p11.2 Deletion
    Boudreau, Eilis A.
    Johnson, Kyle P.
    Jackman, Angela R.
    Blancato, Jan
    Huizing, Marjan
    Bendavid, Claude
    Jones, MaryPat
    Chandrasekharappa, Settara C.
    Lewy, Alfred J.
    Smith, Ann C. M.
    Magenis, R. Ellen
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2009, 149A (07) : 1382 - 1391
  • [45] Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)].
    Lupski, JR
    Shaw, CJ
    Stankiewicz, P
    Potocki, L
    AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (05) : 197 - 197
  • [46] Early behavioural manifestation of Smith-Magenis syndrome (del 17p11.2) in a 4-month-old boy
    Einspieler, Christa
    Hirota, Hiroyo
    Yuge, Mariko
    Dejima, Sunao
    Marschik, Peter B.
    DEVELOPMENTAL NEUROREHABILITATION, 2012, 15 (04) : 313 - 316
  • [47] INTERSTITIAL DELETION OF 17P11.2 WITH BRAIN ABNORMALITIES
    MASUNO, M
    ASANO, J
    ARAI, M
    KUWAHARA, T
    ORII, T
    CLINICAL GENETICS, 1992, 41 (05) : 278 - 280
  • [48] Intellectual and Behavioral Phenotypes of Smith-Magenis Syndrome: Comparisons between Individuals with a 17p11.2 Deletion and Pathogenic RAI1 Variant
    Linders, Cathelijne C.
    van Eeghen, Agnies M.
    Zinkstok, Janneke R.
    van den Boogaard, Marie-Jose
    Boot, Erik
    Luo, Xingguang
    GENES, 2023, 14 (08)
  • [49] Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome
    Vieira, Gustavo H.
    Rodriguez, Jayson D.
    Carmona-Mora, Paulina
    Cao, Lei
    Gamba, Bruno F.
    Carvalho, Daniel R.
    Duarte, Andrea de Rezende
    Santos, Suely R.
    de Souza, Deise H.
    DuPont, Barbara R.
    Walz, Katherina
    Moretti-Ferreira, Danilo
    Srivastava, Anand K.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2012, 20 (02) : 148 - 154
  • [50] Hypercholesterolemia in children with Smith-Magenis syndrome: del (17)(p11.2p11.2)
    Smith, ACM
    Gropman, AL
    Bailey-Wilson, JE
    Goker-Alpan, O
    Elsea, SH
    Blancato, J
    Lupski, JR
    Potocki, L
    GENETICS IN MEDICINE, 2002, 4 (03) : 118 - 125
12345