4q35 deletion and 10p15 duplication associated with immunodeficiency
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, cilt.140A, sa.20, ss.2231-2235, 2006 (SCI-Expanded, Scopus)
- 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.