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Banding: Different extents of chromatin condensation Allele names according to phenotype amorph NULL R~ R~ hypomorph Wild type R R hypermorph R R neomorph R~ R~ Standard Dominant – Recessive Haploinsufficiency Human Karyotype – Trisomy 21 Lyse Cell and its Nucleus אי-הפרדה non- disjunction junction אי -הפרדה הפרדת – כרומ. חיבור Non-disjunction in Meiosis I: Animation 18.1a Non-disjunction in Meiosis II: Animation 18.1b Patau Edwards Down Animation 17.2b Monosomy: Karyotype minus 1 chromosome homolog חסר עותק (הומולוג) אחד של כרומוזום Nullisomy: Karyotype minus both chromosome’s homologs שני העותקים (הומולוגים) של כרומוזום אחד חסרים An example: In males X+Y X+Y X Y X+X X Y Y Y An example: In females X1+X2 X1 X1+X2 X2 X1 + X1 X1 X2 X2 X2 XXY - Kleinfeldter XO - Turner Sex-linked anhidrotic ectodermal dysplasia (absence of sweat glands in blue areas) XXX, XXY, XXYY 2n 4n צנון כרוב Nullisomics of modern (hexaploid) wheat