A mosaic small supernumerary marker chromosome 17 in a patient with Tourette syndrome, ADHD and intellectual disability: A case story and review of the literature

被引：2

作者：

Cornelius, Nanna ^{[1
]}

Bertelsen, Birgitte ^{[1
]}

Melchior, Linea ^{[1
]}

Nazaryan, Lusine ^{[1
]}

Debes, Nanette Mol ^{[2
]}

Groth, Camilla ^{[2
]}

Skov, Liselotte ^{[2
]}

Tumer, Zeynep ^{[3
]}

机构：

[1] Rigshosp, Copenhagen Univ Hosp, Dept Clin Genet, Glostrup, Denmark

[2] Tourette Clin, Dept Pediat, Herlev, Denmark

[3] Rigshosp, Copenhagen Univ Hosp, Dept Clin Genet, Kennedy Ctr,Appl Human Mol Genet, Glostrup, Denmark

来源：

PSYCHIATRY RESEARCH | 2015年 / 228卷 / 01期

关键词：

SUSCEPTIBILITY GENES; NITRIC-OXIDE;

D O I：

10.1016/j.psychres.2015.03.022

中图分类号：

R749 [精神病学];

学科分类号：

100205 ;

摘要：

引用

页码：179 / 181

页数：3

共 10 条

[1] Chromosomal rearrangements in Tourette syndrome: implications for identification of candidate susceptibility genes and review of the literature [J].

Bertelsen, Birgitte ;

Debes, Nanette Mol ;

Hjermind, Lena E. ;

Skov, Liselotte ;

Brondum-Nielsen, Karen ;

Tumer, Zeynep .

NEUROGENETICS, 2013, 14 (3-4) :197-203

[2] In Vivo Evidence That TRAF4 Is Required for Central Nervous System Myelin Homeostasis [J].

Blaise, Sebastien ;

Kneib, Marie ;

Rousseau, Adrien ;

Gambino, Frederic ;

Chenard, Marie-Pierre ;

Messadeq, Nadia ;

Muckenstrum, Martine ;

Alpy, Fabien ;

Tomasetto, Catherine ;

Humeau, Yann ;

Rio, Marie-Christine .

PLOS ONE, 2012, 7 (02)

[3] The genetics of attention-deficit/hyperactivity disorder [J].

Coghill, David ;

Banaschewski, Tobias .

EXPERT REVIEW OF NEUROTHERAPEUTICS, 2009, 9 (10) :1547-1565

[4] THE NITRIC-OXIDE PATHWAY - POTENTIAL IMPLICATIONS FOR TREATMENT OF NEUROPSYCHIATRIC DISORDERS [J].

KARATINOS, J ;

ROSSE, RB ;

DEUTSCH, SI .

CLINICAL NEUROPHARMACOLOGY, 1995, 18 (06) :482-499

[5] High Resolution SNP Based Microarray Mapping of Mosaic Supernumerary Marker Chromosomes 13 and 17: Delineating Novel Loci for Apraxia [J].

Kogan, Jillene M. ;

Miller, Erin ;

Ware, Stephanie M. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2009, 149A (05) :887-893

[6]

Martino D., 2013, INT REV NEUROBIOLOGY

[7] Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype [J].

Potocki, Lorraine ;

Bi, Weimin ;

Treadwell-Deering, Diane ;

Carvalho, Claudia M. B. ;

Eifert, Anna ;

Friedman, Ellen M. ;

Glaze, Daniel ;

Krull, Kevin ;

Lee, Jennifer A. ;

Lewis, Richard Alan ;

Mendoza-Londono, Roberto ;

Robbins-Furman, Patricia ;

Shaw, Chad ;

Shi, Xin ;

Weissenberger, George ;

Withers, Marjorie ;

Yatsenko, Svetlana A. ;

Zackai, Elaine H. ;

Stankiewicz, Pawel ;

Lupski, James R. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2007, 80 (04) :633-649

[8] An individual with Gilles de la Tourette syndrome and Smith-Magenis microdeletion syndrome: is chromosome 17p11.2 a candidate region for Tourette syndrome putative susceptibility genes? [J].

Shelley, B. P. ;

Robertson, M. M. ;

Turk, J. .

JOURNAL OF INTELLECTUAL DISABILITY RESEARCH, 2007, 51 :620-624

[9] Regulation of striatal dopamine neurotransmission by nitric oxide: Effector pathways and signaling mechanisms [J].

West, AR ;

Galloway, MP ;

Grace, AA .

SYNAPSE, 2002, 44 (04) :227-245

[10] Subcellular targeting of oxidants during endothelial cell migration [J].

Wu, RF ;

Xu, YC ;

Ma, ZY ;

Nwariaku, FE ;

Sarosi, GA ;

Terada, LS .

JOURNAL OF CELL BIOLOGY, 2005, 171 (05) :893-904

← 1 →