A familial duplication of 22q11.2 including the TUPLE1 locus

被引：0
|
作者：
Curtis, Christine A.
Ward, Catherine
机构：
[1] Case Western Reserve Univ, Univ Hosp Cleveland, Ctr Human Genet Lab, Cleveland, OH 44106 USA
[2] Childrens Hosp, Med Ctr, Dept Genet, Akron, OH 44308 USA
来源：
CYTOGENETIC AND GENOME RESEARCH | 2007年 / 116卷 / 04期
关键词：
D O I：
暂无
中图分类号：
Q2 [细胞生物学];
学科分类号：
071009 ; 090102 ;
摘要：
引用
收藏
页数：1
相关论文
共 50 条
  • [41] Duplication 22q11.2: Clinically heterogeneous new syndrome or genetic polymorphism?
    Bernstein, J. A.
    Chen, K. C.
    Saal, H. M.
    Alkuraya, F. S.
    Stevens, C. A.
    Cherry, A. M.
    Hoyme, H. E.
    JOURNAL OF INVESTIGATIVE MEDICINE, 2007, 55 (01) : S125 - S126
  • [42] Falciform Macular Folds and Chromosome 22q11.2: Evidence in Support of a Locus for Familial Exudative Vitreoretinopathy (FEVR)
    Gandhi, Jarel K.
    Tollefson, Travis T.
    Telander, David G.
    OPHTHALMIC GENETICS, 2014, 35 (02) : 112 - 116
  • [43] Review of the Pathophysiology and Clinical Manifestations of 22q11.2 Deletion and Duplication Syndromes
    Purow, Jeremy
    Waidner, Lauren
    Ale, Hanadys
    CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY, 2025, 68 (01)
  • [44] Chromosome 22q11.2 Duplication Syndrome and Diagnostic Overshadowing: A Case Report
    Singh, Ashok
    Amiola, Ayomipo
    Temple, Phil
    Maplanka, Charlotte
    Gunaratna, Ignatius
    Alexander, Regi
    BJPSYCH OPEN, 2023, 9 : S118 - S119
  • [45] Chromosome 22q11.2 Duplication Syndrome and Diagnostic Overshadowing: A Case Report
    Singh, Ashok
    Amiola, Ayomipo
    Temple, Phil
    Maplanka, Charlotte
    Gunaratna, Ignatius
    Alexander, Regi
    BJPSYCH OPEN, 2023, 9 : S118 - S119
  • [46] Novel 22q11.2 duplication (LCR22A-LCR22H) in two sisters
    Durant, Jenna
    Meneses, Zaimary
    Santos, Francis Jeshira Reynoso
    MOLECULAR GENETICS AND METABOLISM, 2021, 132 : S120 - S120
  • [47] 22q11.2 Duplication syndrome:: Two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes
    Portnoï, MF
    Lebas, F
    Gruchy, N
    Ardalan, A
    Biran-Mucignat, V
    Malan, V
    Finkel, L
    Roger, G
    Ducrocq, S
    Gold, F
    Taillemite, JL
    Marlin, S
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2005, 137A (01) : 47 - 51
  • [48] 22q11.2 microduplication is not common in patients with clinical features associated with 22q11.2 deletion
    Henderson, RA
    O'Brien, O
    Powell, H
    JOURNAL OF MEDICAL GENETICS, 2005, 42 : S56 - S56
  • [49] Seven new cases of Cayler cardiofacial syndrome with chromosome 22q11.2 deletion, including a familial case
    Bawle, EV
    Conard, J
    Van Dyke, DL
    Czarnecki, P
    Driscoll, DA
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1998, 79 (05): : 406 - 410
  • [50] Case study: deep phenotyping of a case with paternally inherited 16p11.2 duplication and 22q11.2 duplication
    Verbesselt, Jente
    Zink, Inge
    Breckpot, Jeroen
    Swillen, Ann
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 184 - 184
12345