Clinical and molecular delineation of 16p13.3 duplication in a patient with congenital heart defect and multiple congenital anomalies

被引：20

作者：

Chen, Jin-Lan ^{[1
]}

Yang, Yi-Feng ^{[1
,2
]}

Huang, Can ^{[1
]}

Wang, Jian ^{[1
,2
]}

Yang, Jin-Fu ^{[1
]}

Tan, Zhi-Ping ^{[1
,2
]}

机构：

[1] Cent S Univ, Xiangya Hosp 2, Dept Cardiothorac Surg, Changsha 410011, Hunan, Peoples R China

[2] Cent S Univ, Xiangya Hosp 2, State Key Lab Med Genet, Clin Ctr Gene Diag & Therapy, Changsha 410011, Hunan, Peoples R China

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2012年 / 158A卷 / 03期

关键词：

RECOGNIZABLE SYNDROME; REGION; DELAY; 16P;

D O I：

10.1002/ajmg.a.34434

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：685 / 688

页数：4

共 11 条

[1] Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2 [J].

Ballif, Blake C. ;

Hornor, Sara A. ;

Jenkins, Elizabeth ;

Madan-Khetarpal, Suneeta ;

Surti, Urvashi ;

Jackson, Kelly E. ;

Asamoah, Alexander ;

Brock, Pamela L. ;

Gowans, Gordon C. ;

Conway, Robert L. ;

Graham, John M., Jr. ;

Medne, Livija ;

Zackai, Elaine H. ;

Shaikh, Tamim H. ;

Geoghegan, Joel ;

Selzer, Rebecca R. ;

Eis, Peggy S. ;

Bejjani, Bassem A. ;

Shaffer, Lisa G. .

NATURE GENETICS, 2007, 39 (09) :1071-1073

[2]

BOUE J, 1976, ANN GENET-PARIS, V19, P233

[3] A copy number variation morbidity map of developmental delay [J].

Cooper, Gregory M. ;

Coe, Bradley P. ;

Girirajan, Santhosh ;

Rosenfeld, Jill A. ;

Vu, Tiffany H. ;

Baker, Carl ;

Williams, Charles ;

Stalker, Heather ;

Hamid, Rizwan ;

Hannig, Vickie ;

Abdel-Hamid, Hoda ;

Bader, Patricia ;

McCracken, Elizabeth ;

Niyazov, Dmitriy ;

Leppig, Kathleen ;

Thiese, Heidi ;

Hummel, Marybeth ;

Alexander, Nora ;

Gorski, Jerome ;

Kussmann, Jennifer ;

Shashi, Vandana ;

Johnson, Krys ;

Rehder, Catherine ;

Ballif, Blake C. ;

Shaffer, Lisa G. ;

Eichler, Evan E. .

NATURE GENETICS, 2011, 43 (09) :838-U44

[4] 16p subtelomeric duplication: a clinically recognizable syndrome [J].

Digilio, Maria Cristina ;

Bernardini, Laura ;

Capalbo, Anna ;

Capolino, Rossella ;

Gagliardi, Maria Giulia ;

Marino, Bruno ;

Novelli, Antonio ;

Dallapiccola, Bruno .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2009, 17 (09) :1135-1140

[5] Rubinstein-Taybi syndrome [J].

Hennekam, Raoul C. M. .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2006, 14 (09) :981-985

[6] Duplication of the Rubinstein-Taybi region on 16p13.3 is associated with a distinctive phenotype [J].

Marangi, Giuseppe ;

Leuzzi, Vincenzo ;

Orteschi, Daniela ;

Grimaldi, Maria E. ;

Lecce, Rosetta ;

Neri, Giovanni ;

Zollino, Marcella .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2008, 146A (18) :2313-2317

[7] Genetic basis for congenital heart defects: Current knowledge - A scientific statement from the American heart association congenital cardiac defects committee, council on cardiovascular disease in the young [J].

Pierpont, Mary Ella ;

Basson, Craig T. ;

Benson, D. Woodrow, Jr. ;

Gelb, Bruce D. ;

Giglia, Therese M. ;

Goldmuntz, Elizabeth ;

McGee, Glenn ;

Sable, Craig A. ;

Srivastava, Deepak ;

Webb, Catherine L. .

CIRCULATION, 2007, 115 (23) :3015-3038

[8] Long-term follow-up of a 26-year-old male with duplication of 16p: Clinical report and review [J].

Rochat, Mascha K. ;

Riegel, Mariluce ;

Schinzel, Albert A. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2007, 143A (04) :399-408

[9] Severe expressive-language delay related to duplication of the Williams-Beuren locus [J].

Somerville, MJ ;

Mervis, CB ;

Young, EJ ;

Seo, EJ ;

del Campo, M ;

Bamforth, S ;

Peregrine, E ;

Loo, W ;

Lilley, M ;

Perez-Jurado, LA ;

Morris, CA ;

Scherer, SW ;

Osborne, LR .

NEW ENGLAND JOURNAL OF MEDICINE, 2005, 353 (16) :1694-1701

[10] A microduplication of CBP in a patient with mental retardation and a congenital heart defect [J].

Thienpont, Bernard ;

Breckpot, Jeroen ;

Holvoet, Maureen ;

Vermeesch, Joris R. ;

Devriendt, Koen .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2007, 143A (18) :2160-2164

← 1 2 →