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.

Petek, E; Jenne, D E; Smolle, J; Binder, B; Lasinger, W; Windpassinger, C; Wagner, K; Kroisel, P M; Kehrer-Sawatzki, H

Petek, E; Jenne, D E; Smolle, J; Binder, B; Lasinger, W; Windpassinger, C; Wagner, K; Kroisel, P M; Kehrer-Sawatzki, H.

J Med Genet ; 40(7): 520-5, 2003 Jul.

Article in En | MEDLINE | ID: mdl-12843325

Subject(s)

Gene Deletion; Mosaicism/genetics; Neoplasm Proteins; Neurofibromatosis 1/genetics; Recombination, Genetic; Transcription Factors/genetics; Adult; Animals; Cell Line; Child; Family Health; Fatal Outcome; Female; Haplotypes/genetics; Humans; In Situ Hybridization, Fluorescence; Mitosis/genetics; Neurofibromatosis 1/pathology; Pedigree

Fulltext

XML

PubMed Links

Search on Google

Full text: 1 Collection: 01-internacional Health context: 2_ODS3 / 7_ODS3_muertes_prevenibles_nacidos_ninos Database: MEDLINE Main subject: Recombination, Genetic / Transcription Factors / Neurofibromatosis 1 / Gene Deletion / Mosaicism / Neoplasm Proteins Limits: Adult / Animals / Child / Female / Humans Language: En Journal: J Med Genet Year: 2003 Document type: Article

Fulltext

XML

PubMed Links

Search on Google