4q35 deletion and 10p15 duplication associated with immunodeficiency

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

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, cilt.140A, sa.20, ss.2231-2235, 2006 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 140A Sayı: 20
  • Basım Tarihi: 2006
  • Doi Numarası: 10.1002/ajmg.a.31431
  • Dergi Adı: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.2231-2235
  • Anahtar Kelimeler: arthritis, atopic dermatitis, chromosomal translocation, immune defect, deletion 4q35, duplication 10q15
  • Dokuz Eylül Üniversitesi Adresli: Hayır

Özet

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.