Cortical dysgenesis and 22q11 deletion

被引:0
|
作者
Bird, LM
机构
[1] Childrens Hosp & Hlth Ctr, San Diego, CA USA
[2] Univ Calif San Diego, Dept Pediat, San Diego, CA 92103 USA
关键词
cortical dysgenesis; polymicrogyria; pachygria; gyral abnormality; 22q11; deletion; Di George syndrome; velocardio-facial syndrome;
D O I
10.1097/00019605-200101000-00019
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
A brief description is given of two patients with gyral abnormalities associated with neurogenic limb abnormalities. Clin Dysmorphol 10: 77 (C) 2001 Lippincott Williams & Wilkins.
引用
收藏
页码:77 / 77
页数:1
相关论文
共 50 条
  • [31] 22q11 deletion syndrome: current perspective
    Hacihamdioglu, Bulent
    Hacihamdioglu, Duygu
    Delil, Kenan
    APPLICATION OF CLINICAL GENETICS, 2015, 8 : 123 - 132
  • [32] Myopathy in a patient with chromosome 22q11 deletion
    Mongini, T
    Doriguzzi, C
    Arduino, C
    Brusco, A
    Bortolotto, S
    Mutani, R
    Palmucci, L
    NEUROPEDIATRICS, 2001, 32 (02) : 107 - 109
  • [33] Radial aplasia and chromosome 22q11 deletion
    Digilio, MC
    Giannotti, A
    Marino, B
    Guadagni, AM
    Orzalesi, M
    Dallapiccola, B
    JOURNAL OF MEDICAL GENETICS, 1997, 34 (11) : 942 - 944
  • [34] CEREBRAL POLYMICROGYRIA AND 22q11 DELETION SYNDROME
    Arriola-Pereda, G.
    Verdu-Perez, A.
    de Castro-De Castro, P.
    REVISTA DE NEUROLOGIA, 2009, 48 (04) : 188 - 190
  • [35] 22q11 deletion and polymicrogyria - cause or coincidence?
    Worthington, S
    Turner, A
    Elber, J
    Andrews, PI
    CLINICAL DYSMORPHOLOGY, 2000, 9 (03) : 193 - 197
  • [36] Frequency and predictive value of 22q11 deletion
    Liling, J
    Cross, I
    Burn, J
    Daniel, CP
    Tawn, EJ
    Parker, L
    JOURNAL OF MEDICAL GENETICS, 1999, 36 (10) : 794 - 795
  • [37] CHARACTERIZATION OF 22Q11 DELETION IN CLL PATIENTS
    Malinova, K.
    Tichy, B.
    Malcikova, J.
    Kozubik, K. Stano
    Mraz, M.
    Doubek, M.
    Mayer, J.
    Pospisilova, S.
    HAEMATOLOGICA-THE HEMATOLOGY JOURNAL, 2009, 94 : 362 - 363
  • [38] 22q11 deletion syndrome as a cause of hypoparathyroidism
    Bagci, Onur
    Ercan, Oya
    Kayserili, Hulya
    HORMONE RESEARCH, 2008, 70 : 244 - 244
  • [39] Prenatal detection of a deletion 22q11 by FISH
    Garcia-Heras, J
    Rao, PN
    Stettler, RW
    Huslig, M
    Smart, RL
    Pettenati, MJ
    PRENATAL DIAGNOSIS, 1998, 18 (04) : 411 - 413
  • [40] Catecholamines in adults with 22q11 deletion syndrome
    Boot, E.
    Booij, J.
    Abeling, N.
    Linszen, D. H.
    van Amelsvoort, T. A.
    JOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES, 2010, 23 (05) : 420 - 420