Chromosome 22q11.2 Microdeletion Syndrome

被引：4
|
作者：
Molesky, Marion G. [1 ]
机构：
[1] Neonatal Intens Care Program, Edmonton, AB, Canada
来源：
NEONATAL NETWORK | 2011年 / 30卷 / 05期
关键词：
D O I：
10.1891/0730-0832.30.5.304
中图分类号：
R47 [护理学];
学科分类号：
1011 ;
摘要：
Chromosome 22q11.2 microdeletion syndrome is the most common microdeletion syndrome in humans. It involves the loss of genetic material on the short arm of one of the chromosome 22 alleles. Until advanced testing was available, this syndrome was known by various names including DiGeorge syndrome and velo-cardio-facial syndrome. This syndrome has a varied presentation with significant abnormalities including congenital heart disease, hypocalcemia, immunologic deficiencies, learning disabilities, and behavioral problems. A multidisciplinary approach is required to diagnose and manage the varied manifestations.
引用
收藏
页码：304 / 311
页数：8
相关论文
共 50 条
  • [41] Thymic function in chromosome 22q11.2 deletion syndrome
    Elder, ME
    Wara, DW
    Sehnert, AJ
    White, C
    Harris, JM
    PEDIATRIC RESEARCH, 2003, 53 (04) : 14A - 14A
  • [42] Sclerocornea associated with the chromosome 22q11.2 deletion syndrome
    Binenbaum, Gil
    McDonald-McGinn, Donna M.
    Zackai, Elaine H.
    Walker, B. Michael
    Coleman, Karlene
    Mach, Amy M.
    Adam, Margaret
    Manning, Melanie
    Alcorn, Deborah M.
    Zabel, Carrie
    Anderson, Dennis R.
    Forbes, Brian J.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2008, 146A (07) : 904 - 909
  • [43] Spectrum of conotruncal congenital heart malformations in patients with 22q11.2 chromosome microdeletion
    Juaneda, E.
    Rossi, N.
    Sturich, A.
    Montes, C.
    Schumiachkin, R.
    Chavez, A.
    Vega, B.
    Alday, L.
    CIRCULATION, 2008, 118 (12) : E423 - E423
  • [44] DiGeorge syndrome/chromosome 22q11.2 deletion syndrome.
    Sullivan K.E.
    Current Allergy and Asthma Reports, 2001, 1 (5) : 438 - 444
  • [45] Dopaminergic neurons in chromosome 22q11.2 deletion syndrome
    Inoue, Haruhisa
    EBIOMEDICINE, 2021, 63
  • [46] Ocular findings in the chromosome 22q11.2 deletion syndrome
    Forbes, Brian J.
    Binenbaum, Gil
    Edmond, Jane C.
    DeLarato, Nicole
    McDonald-McGinn, Donna M.
    Zackai, Elaine H.
    JOURNAL OF AAPOS, 2007, 11 (02): : 179 - 182
  • [47] Clinical variability of chromosome 22q11.2 deletion syndrome
    Boyarchuk, Oksana
    Volyanska, Liubov
    Dmytrash, Liubov
    CENTRAL EUROPEAN JOURNAL OF IMMUNOLOGY, 2017, 42 (04) : 412 - 417
  • [48] Genealogical Inference of Cellular and Molecular Mechanisms Downstream of the Chromosome 22q11.2 Microdeletion
    Gokhale, Avanti
    Freeman, Amanda
    Zlatic, Stephanie A.
    Hartwig, Cortnie
    Comstra, Skye H.
    Duong, Duc
    Espinoza, Karena
    Seyfried, Nicholas
    Repetto, Gabriela
    Diamantopoulou, Anastasia
    Gogos, Joseph
    Rapoport, Judith
    Faundez, Victor
    BIOLOGICAL PSYCHIATRY, 2016, 79 (09) : 42S - 43S
  • [49] 22q11.2 microdeletion syndrome is a common cause of renal tract malformations
    Stéphane Burtey
    Nature Clinical Practice Nephrology, 2008, 4 (8): : E1 - E1
  • [50] Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion size
    Ashutosh Halder
    Manish Jain
    Isha Chaudhary
    Binuja Varma
    Molecular Cytogenetics, 5
12345