VSE knjižnice (vzajemna bibliografsko-kataložna baza podatkov COBIB.SI)
  • Parcialna trisomija končnega dela dolgega kraka kromosoma 10 : prikaz primera = A case of partial trisomy 10qter
    Zagorac, Andreja ; Kokalj-Vokač, Nadja ; Medica, Igor
    We report on a 10-year old boy referred to our laboratory because of developmental and speech delay. He has minor anomalies of the face: a wide nasal root, epicanthal folds, antimongoloid slant, ... narrow palpebral fissures, microretrognathia and a bow shaped mouth. No major malformations were found. His psychological evaluation revealed mild mental retardation (I.Q.=70). Analysis of his chromosomes demonstrated additional material of unknown originon chromosome 21. His parents have normal karyotypes. FISH analysis using Cytocell's Chromoprobe Multiprobe System detected a chromosome 10 specific painting probe on the terminal end of the long arm of chromosome 21. After comparing the bands of chromosome 10 and der(21 ), the karyotype 46, XY,der(21) t(10;21)(q25.2;q22.3) was suggested. Using Cytocell telomeric probes specific for chromosomes 21 and 10, the rearrangement was confirmed. The phenotype findings compared to previously published cases corresponded to trisomy 10qter syndrome.
    Vir: XI. srečanje pediatrov v Mariboru : z mednarodno udeležbo : [ob 200-letnici Splošne bolnišnice Maribor (1799-1999) in ob 75-letnici Dispanzerja za otroke v Mariboru (1925-2000)] (Str. 107-109)
    Vrsta gradiva - prispevek na konferenci
    Leto - 2000
    Jezik - slovenski
    COBISS.SI-ID - 11341273

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