High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation

被引：27

作者：

Jehee, F. S. ^{[1
]}

Krepischi-Santos, A. C. V. ^{[1
]}

Rocha, K. M. ^{[1
]}

Cavalcanti, D. P. ^{[2
]}

Kim, C. A. ^{[3
]}

Bertola, D. R. ^{[3
]}

Alonso, L. G. ^{[4
,5
]}

D'Angelo, C. S. ^{[1
]}

Mazzeu, J. F. ^{[1
]}

Froyen, G. ^{[6
,7
]}

Lugtenberg, D. ^{[8
]}

Vianna-Morgante, A. M. ^{[1
]}

Rosenberg, C. ^{[1
]}

Passos-Bueno, M. R. ^{[1
]}

机构：

[1] Univ Sao Paulo, Ctr Estudos Genoma Humano, Dept Genet & Biol Evolutiva, Inst Biociencias, BR-05508900 Sao Paulo, Brazil

[2] Univ Estadual Campinas, Fac Ciencias Med, Dept Med Genet, Sao Paulo, Brazil

[3] Univ Sao Paulo, Fac Med, Hosp Clin, Inst Crianca, BR-09500900 Sao Paulo, Brazil

[4] UNIFESP EPM, Dept Morfol, Ctr Genet Med, Sao Paulo, Brazil

[5] UNIFESP EPM, Dept Pediat, Ctr Genet Med, Sao Paulo, Brazil

[6] Katholieke Univ Leuven, Dept Human Genet, Human Genome Lab, Louvain, Belgium

[7] VIB, Dept Mol & Dev Genet, Louvain, Belgium

[8] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands

来源：

JOURNAL OF MEDICAL GENETICS | 2008年 / 45卷 / 07期

关键词：

D O I：

10.1136/jmg.2007.057042

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We present the first comprehensive study, to our knowledge, on genomic chromosomal analysis in syndromic craniosynostosis. In total, 45 patients with craniosynostotic disorders were screened with a variety of methods including conventional karyotype, microsatellite segregation analysis, subtelomeric multiplex ligation-dependent probe amplification) and whole-genome array-based comparative genome hybridisation. Causative abnormalities were present in 42.2% (19/45) of the samples, and 27.8% (10/36) of the patients with normal conventional karyotype carried submicroscopic imbalances. Our results include a wide variety of imbalances and point to novel chromosomal regions associated with craniosynostosis. The high incidence of pure duplications or trisomies suggests that these are important mechanisms in craniosynostosis, particularly in cases involving the metopic suture.

引用

页码：447 / 450

页数：4

共 15 条

[1]

Cohen M. M., 2000, CRANIOSYNOSTOSIS DIA

[2] Opitz "C" trigonocephaly-like syndrome in a patient with terminal deletion of 2p and partial duplication of 17q [J].