A newly recognised microdeletion syndrome of 2p15-16.1 manifesting moderate developmental delay, autistic behaviour, short stature, microcephaly, and dysmorphic features: a new patient with 3.2 Mb deletion

被引：38

作者：

Liang, J-S ^{[1
]}

Shimojima, K. ^{[1
]}

Ohno, K. ^{[2
]}

Sugiura, C. ^{[2
]}

Une, Y. ^{[3
]}

Ohno, K. ^{[2
]}

Yamamoto, T. ^{[1
]}

机构：

[1] Tokyo Womens Med Univ, IREIIMS, Tokyo, Japan

[2] Tottori Univ, Fac Med, Div Child Neurol, Inst Neurol Sci, Yonago, Tottori 683, Japan

[3] Une Clin, Onomichi, Japan

来源：

JOURNAL OF MEDICAL GENETICS | 2009年 / 46卷 / 09期

关键词：

REGION;

D O I：

10.1136/jmg.2008.059220

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：645 / 647

页数：3

共 7 条

[1] The facial dysmorphy in the newly recognised microdeletion 2p15-p16.1 refined to a 570 kb region in 2p15 [J].

Chabchoub, E. ;

Vermeesch, J. R. ;

de Ravel, T. ;

de Cock, P. ;

Fryns, J-P .

JOURNAL OF MEDICAL GENETICS, 2008, 45 (03) :189-192

[2] A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysis [J].

De Leeuw, N. ;

Pfundt, R. ;

Koolen, D. A. ;

Neefs, I. ;

Scheltinga, I. ;

Mieloo, H. ;

Sistermans, E. A. ;

Nillesen, W. ;

Smeets, D. F. ;

de Vries, B. B. A. ;

Knoers, N. V. A. M. .

JOURNAL OF MEDICAL GENETICS, 2008, 45 (02) :122-124

[3] From microscopes to microarrays: dissecting recurrent chromosomal rearrangements [J].

Emanuel, Beverly S. ;

Saitta, Sulagna C. .

NATURE REVIEWS GENETICS, 2007, 8 (11) :869-883

[4] Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1 [J].

Rajcan-Separovic, E. ;

Harvard, C. ;

Liu, X. ;

McGillivray, B. ;

Hall, J. G. ;

Qiao, Y. ;

Hurlburt, J. ;

Hildebrand, J. ;

Mickelson, E. C. R. ;

Holden, J. J. A. ;

Lewis, M. E. S. .

JOURNAL OF MEDICAL GENETICS, 2007, 44 (04) :269-276

[5] Molecular characterization of inv dup del(8p): Analysis of five cases [J].

Shimokawa, O ;

Kurosawa, K ;

Ida, T ;

Harada, N ;

Kondoh, T ;

Miyake, N ;

Yoshiura, K ;

Kishino, T ;

Ohta, T ;

Niikawa, N ;

Matsumoto, N .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2004, 128A (02) :133-137

[6] An oligonucleotide based array-CGH system for detection of genome wide copy number changes including subtelomeric regions for genetic evaluation of mental retardation [J].

Toruner, Gokce A. ;

Streck, Deanna L. ;

Schwalb, Marvin N. ;

Dermody, James J. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2007, 143A (08) :824-829

[7] A large interstitial deletion of 17p13.1p11.2 involving the Smith-Magenis chromosome region in a girl with multiple congenital anomalies [J].

Yamamoto, T ;

Ueda, H ;

Kawataki, M ;

Yamanaka, M ;

Asou, T ;

Kondoh, Y ;

Harada, N ;

Matsumoto, N ;

Kurosawa, K .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2006, 140A (01) :88-91

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