Mitotic recombination mediated by the JJAZF1 (KIAA0160) gene causing somatic mosaicism and a new type of constitutional NF1 microdeletion in two children of a mosaic female with only few manifestations

被引：41

作者：

Petek, E

Jenne, DE

Smolle, J

Binder, B

Lasinger, W

Windpassinger, C

Wagner, K

Kroisel, PM

Kehrer-Sawatzki, H

机构：

[1] Graz Univ, Inst Med Biol & Human Genet, A-8010 Graz, Austria

[2] Max Planck Inst Neurobiol, Dept Neuroimmunol, Martinsried, Germany

[3] Graz Univ, Dept Dermatol, A-8010 Graz, Austria

[4] Univ Ulm, Dept Human Genet, Ulm, Germany

来源：

JOURNAL OF MEDICAL GENETICS | 2003年 / 40卷 / 07期

关键词：

D O I：

10.1136/jmg.40.7.520

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：520 / 525

页数：6

共 33 条

[1]

Ainsworth PJ, 1997, HUM MUTAT, V9, P452, DOI 10.1002/(SICI)1098-1004(1997)9:5<452::AID-HUMU12>3.3.CO

[2]

2-V

[3]

Cnossen MH, 1997, HUM MUTAT, V9, P458, DOI 10.1002/(SICI)1098-1004(1997)9:5<458::AID-HUMU13>3.0.CO

[4]

2-1

[5]

Colman SD, 1996, AM J HUM GENET, V58, P484

[6] Unequal meiotic crossover:: A frequent cause of NF1 microdeletions [J].

Correa, CL ;

Brems, H ;

Lázaro, C ;

Marynen, P ;

Legius, E .

AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 66 (06) :1969-1974

[7]

Correa CL, 1999, HUM MUTAT, V14, P387, DOI 10.1002/(SICI)1098-1004(199911)14:5<387::AID-HUMU4>3.0.CO

[8]

2-4

[9]

CORREA CL, 2001, HUM MOL GENET, V10, P1387

[10] NF1 microdeletion breakpoints are clustered at flanking repetitive sequences [J].

Dorschner, MO ;

Sybert, VP ;

Weaver, M ;

Pletcher, BA ;

Stephens, K .

HUMAN MOLECULAR GENETICS, 2000, 9 (01) :35-46

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