[Unusual chromosome translocation 46, XX, t(1;16) (p13;p13) as a possible cause of retarded development of carrier].
Unbalanced changes of chromosomes with loss or extra genetic material often cause changing phenotype. The main characteristics unbalanced karyotype involves mental retardation and numbers of anomalies, especially if the change involves autosoms. In this paper child with retard development and de novo translocation between chromosome 1 and chromosome 16 was described. Cytogenetics survey was carried out to establishing possible cause in relation with retard development and it involved standard cytogenetics method and method of differential staining (G-banding) that enables identification of certain structural rearrangement of chromosomes. Chromosome aberration was translocation of part of p arm of chromosome 1 on p arm of chromosome 16, that is, it presents abnormal karyotype 46, XX, t(1;16)(p13;p13) that might be one of the cause of retard development of child.
Nefić
Hilada
H
Odsjek za biologiju, Prirodno-matematicki fakultet Univerziteta U Sarajevu.
D002648:Child; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D014178:Translocation, Genetic