title: Hyperdiploid karyotype in a childhood MDS patient.
abstract: 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.
authors.affiliation: Department of Genetics, Medical Faculty, Selçuk University, 42080, Konya - Turkey.
authors.forename: H
authors.initials: H
authors.lastname: Acar
authors.forename: U
authors.initials: U
authors.lastname: Calişkan U
authors.forename: M
authors.initials: M
authors.lastname: Kaynak
authors.forename: M S
authors.initials: MS
authors.lastname: Yildirim
authors.forename: D A
authors.initials: DA
authors.lastname: Largaespada
mesh_terms: 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