Atıf İçin Kopyala
CİNGÖZ S., Bisgaard A. M., Bache I., Bryndorf T., Kirchoff M., Petersen W., ...Daha Fazla
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, sa.20, ss.2231-2235, 2006 (SCI-Expanded)
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Yayın Türü:
Makale / Tam Makale
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Cilt numarası:
Sayı:
20
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Basım Tarihi:
2006
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Doi Numarası:
10.1002/ajmg.a.31431
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Dergi Adı:
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
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Derginin Tarandığı İndeksler:
Science Citation Index Expanded (SCI-EXPANDED), Scopus
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Sayfa Sayıları:
ss.2231-2235
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Anahtar Kelimeler:
arthritis, atopic dermatitis, chromosomal translocation, immune defect, deletion 4q35, duplication 10q15, LONG ARM, TERMINAL DELETION, CHROMOSOME-4, DISTINCT, TRISOMY, FAMILY
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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.