DELETION 2q37.3→qter AND DUPLICATION 15q24.3→qter CHARACTERIZED BY ARRAY CGH IN A GIRL WITH EPILEPSY AND DYSMORPHIC FEATURES

被引：0
作者：
Chen, C. -P [1 ,2 ,3 ,4 ,5 ,6 ]
Lin, S. -P [2 ,7 ]
Chern, S. -R. [2 ]
Tsai, F. -J. [4 ,8 ,9 ]
Wu, P-C. [1 ]
Lee, C. -C. [1 ]
Chen, L. -F. [1 ]
Lee, M-S. [1 ]
Wang, W. [2 ,10 ]
机构：
[1] Mackay Mem Hosp, Dept Obstet & Gynecol, Taipei, Taiwan
[2] Mackay Mem Hosp, Dept Med Res, Taipei, Taiwan
[3] Asia Univ, Dept Biotechnol, Taichung, Taiwan
[4] China Med Univ, Coll Chinese Med, Sch Chinese Med, Taichung, Taiwan
[5] Natl Yang Ming Univ, Inst Clin & Community Hlth Nursing, Taipei 112, Taiwan
[6] Natl Yang Ming Univ, Dept Obstet & Gynecol, Sch Med, Taipei 112, Taiwan
[7] Mackay Mem Hosp, Dept Pediat, Taipei, Taiwan
[8] China Med Univ Hosp, Dept Med Genet, Taichung, Taiwan
[9] China Med Univ Hosp, Dept Med Res, Taichung, Taiwan
[10] Tatung Univ, Dept Bioengn, Taipei 104, Taiwan
来源：
GENETIC COUNSELING | 2010年 / 21卷 / 02期
关键词：
IGF-I RECEPTOR; GENE; OVERGROWTH; CHILD; 15Q;
D O I：
暂无
中图分类号：
Q81 [生物工程学（生物技术）]; Q93 [微生物学];
学科分类号：
071005 ; 0836 ; 090102 ; 100705 ;
摘要：
引用
收藏
页码：263 / 267
页数：5
相关论文
共 11 条
  • [1] IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation
    Abuzzahab, MJ
    Schneider, A
    Goddard, A
    Grigorescu, F
    Lautier, C
    Keller, E
    Kiess, W
    Klammt, J
    Kratzsch, J
    Osgood, D
    Pfäffle, R
    Raile, K
    Seidel, B
    Smith, RJ
    Chernausek, SD
    Frank, GR
    Kaplowitz, PB
    Pescovitz, OH
    Smith, EP
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 2003, 349 (23) : 2211 - 2222
  • [2] Polymorphic variants of insulin-like growth factor I (IGF-I) receptor and phosphoinositide 3-kinase genes affect IGF-I plasma levels and human longevity:: Cues for an evolutionarily conserved mechanism of life span control
    Bonafè, M
    Barbieri, M
    Marchegiani, F
    Olivieri, F
    Ragno, E
    Giampieri, C
    Mugianesi, E
    Centurelli, M
    Franceschi, C
    Paolisso, G
    [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2003, 88 (07) : 3299 - 3304
  • [3] Trisomy 15q25.2-qter in an autistic child: Genotype-phenotype correlations
    Bonati, MT
    Finelli, P
    Giardino, D
    Gottardi, G
    Roberts, W
    Larizza, L
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2005, 133A (02) : 184 - 188
  • [4] Chromosome 2q terminal deletion: Report of 6 new patients and review of phenotype-breakpoint correlations in 66 individuals
    Casas, KA
    Mononen, TK
    Mikail, CN
    Hassed, SJ
    Li, SB
    Mulvihill, JJ
    Lin, HJ
    Falk, RE
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2004, 130A (04) : 331 - 339
  • [5] Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature
    Faivre, L
    Gosset, P
    Cormier-Dairel, V
    Odent, S
    Amiel, J
    Giurgea, I
    Nassogne, MC
    Pasquier, L
    Munnich, A
    Romana, S
    Prieur, M
    Vekemans, M
    de Blois, MC
    Turleau, C
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2002, 10 (11) : 699 - 706
  • [6] Tall stature and duplication of the insulin-like growth factor I receptor gene
    Kant, S. G.
    Kriek, M.
    Walenkamp, M. J. E.
    Hansson, K. B. M.
    van Rhijn, A.
    Clayton-Smith, J.
    Wit, J. M.
    Breuning, M. H.
    [J]. EUROPEAN JOURNAL OF MEDICAL GENETICS, 2007, 50 (01) : 1 - 10
  • [7] Cell proliferation activities on skin fibroblasts from a short child with absence of one copy of the type 1 insulin-like growth factor receptor (IGF1R) gene and a tall child with three copies of the IGF1R gene
    Okubo, Y
    Siddle, K
    Firth, H
    O'Rahilly, S
    Wilson, LC
    Willatt, L
    Fukushima, T
    Takahashi, SI
    Petry, CJ
    Saukkonen, T
    Stanhope, R
    Dunger, DB
    [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2003, 88 (12) : 5981 - 5988
  • [8] Reddy KS, 1999, AM J MED GENET, V84, P460, DOI 10.1002/(SICI)1096-8628(19990611)84:5<460::AID-AJMG10>3.0.CO
  • [9] 2-L
  • [10] 15q Overgrowth Syndrome: A Newly Recognized Phenotype Associated With Overgrowth, Learning Difficulties, Characteristic Facial Appearance, Renal Anomalies and Increased Dosage of Distal Chromosome 15q
    Tatton-Brown, Katrina
    Pilz, Daniela T.
    Oerstavik, Karen Helene
    Patton, Michael
    Barber, John C. K.
    Collinson, Morag N.
    Maloney, Vivienne K.
    Huang, Shuwen
    Crolla, John A.
    Marks, Karen
    Ormerod, Eli
    Thompson, Peter
    Nawaz, Zafar
    Lese-Martin, Christa
    Tomkins, Susan
    Waits, Paula
    Rahman, Nazneen
    McEntagart, Meriel
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2009, 149A (02) : 147 - 154
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