Hyperdiploid Karyotype in a Childhood MDS Patient
Yükleniyor...
Tarih
2001
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Blackwell Science Ltd
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
We present a rare case of a paediatric myelodysplastic syndrome (MDS) with congenital anomalies (frontal bossing and premature closure of anterior fontanelle). The case showed the clinical and biological features of a refractory anaemia excess blasts (RAEB). Bone marrow (BM) cytogenetics demonstrated a hyperdiploid karyotype, with several numerical abnormalities and unidentified rearrangements. Fluorescence in situ hybridization (FISH) using chromosome specific alpha -satellite and whole chromosome-specific painting probes verified the hyperdiploid karyotype, and confirmed the origin of the unknown markers and rearrangements more reliably than would be possible using conventional cytogenetic techniques.
Açıklama
Anahtar Kelimeler
MDS-RAEB, hyperdiploid
Kaynak
Clinical and Laboratory Haematology
WoS Q Değeri
Q4
Scopus Q Değeri
N/A
Cilt
23
Sayı
4
Künye
Acar, H., Çalışkan, Ü., Kaynak, M., Yıldırım, M. S., Largaespada, D. A., (2001). Hyperdiploid Karyotype in a Childhood MDS Patient. Clinical and Laboratory Haematology, 23(4), 255-258. Doi: 10.1046/j.1365-2257.2001.00396.x
