Somatic mosaicism of a greater than 1.7-Mb deletion of genomic DNA involving the entire NF1 gene as verified by FISH: Further evidence for a contiguous gene syndrome in 17q11.2

American Journal of Medical Genetics

Volumn 87, Issue 1, 1999, Pages 12-16

  Streubel, Berthold ^a   Latta, Elisabeth ^b,c   Kehrer Sawatzki, Hildegard ^d   Hoffmann, Georg F ^b   Fonatsch, Christa ^a   Rehder, Helga ^a,c  

^a UNIVERSITY OF VIENNA   (Austria)

^b UNIVERSITY HOSPITAL MARBURG   (Germany)

^c PHILIPPS UNIVERSITY MARBURG   (Germany)

^d UNIVERSITY OF ULM   (Germany)

Author keywords

Contiguous gene syndrome; Deletion 17q11.2; FISH; Neurofibromatosis type 1 (NF1); Somatic mosaicism

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 17Q; CHROMOSOME BAND; CHROMOSOME MOSAICISM; DNA FLANKING REGION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; HUMAN; LYMPHOCYTE; MALE; MICROCEPHALY; NEUROFIBROMATOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL;

EID: 0033527611     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19991105)87:1<12::AID-AJMG3>3.0.CO;2-O     Document Type: Article

References (23)

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