学术探索
学术期刊
新闻热点
数据分析
智能评审

The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies

被引：59
作者：
de la Rochebrochard, Ceine
Joly-Helas, Geraldine
Goldenberg, Alice
Durand, Isabelle
Laquerriere, Annie
Ickowicz, Valentine
Saugier-Veber, Pascale
Eurin, Daniele
Moirot, Helene
Diguet, Alain
de Kergal, Fabrice
Tiercin, Coralie
Mace, Bertrand
Marpeau, Loic
Frebourg, Thierry
机构：
[1] Rouen Univ Hosp, Lab Cytogenet, F-76031 Rouen, France
[2] Rouen Univ Hosp, Dept Genet, F-76031 Rouen, France
[3] Rouen Univ Hosp, Dept Pediat, F-76031 Rouen, France
[4] Rouen Univ Hosp, Dept Pathol, F-76031 Rouen, France
[5] Rouen Univ Hosp, Dept Obstet & Gynecol, F-76031 Rouen, France
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2006年 / 140A卷 / 14期
关键词：
D O I：
10.1002/ajmg.a.31227
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：1608 / 1613
页数：6
相关论文
共 22 条
  • [1] BEIRAGHI S, 2004, AM J HUM GENET, V75, P662
  • [2] Berends MJW, 2001, GENET COUNSEL, V12, P23
  • [3] A common molecular basis for rearrangement disorders on chromosome 22q11
    Edelmann, L
    Pandita, RK
    Spiteri, E
    Funke, B
    Goldberg, R
    Palanisamy, N
    Chaganti, RSK
    Magenis, E
    Shprintzen, RJ
    Morrow, BE
    [J]. HUMAN MOLECULAR GENETICS, 1999, 8 (07) : 1157 - 1167
  • [4] Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome
    Edelmann, L
    Pandita, RK
    Morrow, BE
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 64 (04) : 1076 - 1086
  • [5] Microduplication 22q11.2, an emerging syndrome: Clinical, cytogenetic, and molecular analysis of thirteen patients
    Ensenauer, RE
    Adeyinka, A
    Flynn, HC
    Michels, VV
    Lindor, NM
    Dawson, DB
    Thorland, EC
    Lorentz, CP
    Goldstein, JL
    McDonald, MT
    Smith, WE
    Simon-Fayard, E
    Alexander, AA
    Kulharya, AS
    Ketterling, RP
    Clark, RD
    Jalal, SM
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (05) : 1027 - 1040
  • [6] SCREENING FOR DEMENTIA BY MEMORY TESTING
    GROBER, E
    BUSCHKE, H
    CRYSTAL, H
    BANG, S
    DRESNER, R
    [J]. NEUROLOGY, 1988, 38 (06) : 900 - 903
  • [7] HASSED S, 2004, AM J HUM GENET S, V75, P151
  • [8] A new genomic duplication syndrome complementary to the velocardiofacial (22q11 deletion) syndrome
    Hassed, SJ
    Hopcus-Niccum, D
    Zhang, L
    Li, S
    Mulvihill, JJ
    [J]. CLINICAL GENETICS, 2004, 65 (05) : 400 - 404
  • [9] PRODH mutations and hyperprolinemia in a subset of schizophrenic patients
    Jacquet, H
    Raux, G
    Thibaut, F
    Hecketsweiler, B
    Houy, E
    Demilly, C
    Haouzir, S
    Allio, G
    Fouldrin, G
    Drouin, V
    Bou, J
    Petit, M
    Campion, D
    Frébourg, T
    [J]. HUMAN MOLECULAR GENETICS, 2002, 11 (19) : 2243 - 2249
  • [10] INTERSTITIAL DUPLICATION OF PROXIMAL 22Q - PHENOTYPIC OVERLAP WITH CAT EYE SYNDROME
    KNOLL, JHM
    ASAMOAH, A
    PLETCHER, BA
    WAGSTAFF, J
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1995, 55 (02): : 221 - 224
123