4q35 deletion and 10p15 duplication associated with immunodeficiency

CİNGÖZ S., Bisgaard A. M., Bache I., Bryndorf T., Kirchoff M., Petersen W., ...More

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, no.20, pp.2231-2235, 2006 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: Issue: 20
  • Publication Date: 2006
  • Doi Number: 10.1002/ajmg.a.31431
  • Journal Name: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.2231-2235
  • Keywords: arthritis, atopic dermatitis, chromosomal translocation, immune defect, deletion 4q35, duplication 10q15, LONG ARM, TERMINAL DELETION, CHROMOSOME-4, DISTINCT, TRISOMY, FAMILY
  • Dokuz Eylül University Affiliated: No

Abstract

We report a familial cryptic reciprocal translocation between 4q35 and 10p15 leading to deletion of the terminal long arm of chromosome 4 and duplication of the terminal short arm of chromosome 10 in two family members who both have immunological disturbances and a similar facial appearance. The precise location and extent of the deletion and duplication was determined by fluorescence in situ hybridization (FISH). Furthermore, we investigated the deletion.