Hyperdiploid karyotype in a childhood MDS patient.
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.
Acar
H
H
Department of Genetics, Medical Faculty, Selçuk University, 42080, Konya - Turkey.
Calişkan U
U
U
Kaynak
M
M
Yildirim
M S
MS
Largaespada
D A
DA
D000015:Abnormalities, Multiple; D000754:Anemia, Refractory, with Excess of Blasts / Q000235:genetics; D002869:Chromosome Aberrations; D020732:Cytogenetic Analysis; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D008297:Male; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D011123:Polyploidy