Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome

被引：55

作者：

Tan, T. Y. ^{[1
]}

Aftimos, S. ^{[2
]}

Worgan, L. ^{[3
]}

Susman, R. ^{[4
,5
]}

Wilson, M. ^{[4
,5
]}

Ghedia, S. ^{[6
]}

Kirk, E. P. ^{[6
]}

Love, D. ^{[7
]}

Ronan, A. ^{[8
,9
]}

Darmanian, A. ^{[4
,5
]}

Slavotinek, A. ^{[10
]}

Hogue, J. ^{[10
]}

Moeschler, J. B. ^{[11
]}

Ozmore, J. ^{[11
]}

Widmer, R. ^{[12
]}

Savarirayan, R. ^{[1
]}

Peters, G. ^{[4
,5
]}

机构：

[1] Univ Melbourne, Genet Hlth Serv Victoria, Royal Childrens Hosp, Murdoch Childrens Res Inst,Dept Paediat, Melbourne, Vic, Australia

[2] Auckland Hosp, No Reg Genet Serv, Auckland, New Zealand

[3] Liverpool Hosp, Dept Clin Genet, Liverpool, Merseyside, England

[4] Childrens Hosp Westmead, Dept Clin Genet, Sydney, NSW, Australia

[5] Childrens Hosp Westmead, Dept Cytogenet, Western Sydney Genet Program, Sydney, NSW, Australia

[6] Sydney Childrens Hosp, Dept Med Genet, Randwick, NSW, Australia

[7] Auckland Hosp, LabPLUS, Auckland, New Zealand

[8] Univ Newcastle, Callaghan, NSW 2308, Australia

[9] Hunter Genet Unit, Waratah, NSW, Australia

[10] Univ Calif San Francisco, Dept Pediat, Div Genet, San Francisco, CA 94143 USA

[11] Dartmouth Hitchcock Med Ctr, Lebanon, NH 03766 USA

[12] Childrens Hosp Westmead, Dept Dent, Sydney, NSW, Australia

来源：

JOURNAL OF MEDICAL GENETICS | 2009年 / 46卷 / 07期

关键词：

MAPT; DISORDERS; GENE;

D O I：

10.1136/jmg.2008.065391

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Background: The recognition of the 17q21.31 micro-deletion syndrome has been facilitated by high resolution microarray technology. Recent clinical delineation of this condition emphasises a typical facial appearance, cardiac and renal defects, and speech delay in addition to intellectual disability, hypotonia and seizures. Methods and results: We describe 11 previously unreported patients expanding the phenotypic spectrum to include aortic root dilatation, recurrent joint subluxation, conductive hearing loss due to chronic otitis media, dental anomalies, and persistence of fetal fingertip pads. Molecular analysis of the deletions demonstrates a critical region spanning 440 kb involving either partially or wholly five genes, CRHR1, IMP5, MAPT, STH, and KIAA1267. Conclusion: These data have significant implications for the clinical diagnosis and management of other individuals with 17q21.31 deletions.

引用

页码：480 / 489

页数：10

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