CELS 191 - Lecture 22 (Poly Polidy and Human Chromosomal Abnormallities) PDF

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Aneuploidy: loss or gain of one or a few chromosomes relative to the diploid Polyploidy: possession of multiple entire sets of chromosomes Autoploid: a cell (or individual) that has multiple copies of a set of haploid chromosomes from a single parent (Self-fertilisation) Alloploid: a hybrid individual or cell with two or more sets of chromosomes derived from two different ancestral species. (Cross-fertilisation) Amphiploid: least one diploid set of chromosomes from each parent species. (Cross-fertilisation)

Other chromosomal aberrations: loss, gain or rearrangement of parts of chromosomes  Robertsonian translocation (ROB): is the translocation of a p (short) arm and a q (long) arm of two homologous (paired) or non-homologous chromosomes  Familial Down syndrome is the Robesonian Translocation (ROB) of Chromosome 14 and 21, not Trisomy Down Syndrome

Other chromosomal aberrations: Lejeune Syndrome Williams-Beuren Syndrome

Description: Deletion of the tip of the short arm of Chromosome 5 Deletion of the whole Chromosome 7

Philadelphia Translocation Duchenne Muscular Dystrophy

Translocation of Chromosome 9 and 22, t(9;22) Tyrosine Kinase (TK) over expression Translocation of Chromosome X and 21, t(X;21)

Familial Down Syndrome:

Translocation of Chromosome 14 and 21, t(14;21)

Symptoms: Cri du Chat (Cat’s cry) Reduced spatial awareness / cognition, autism, ease with strangers, left handedness, love for music, social, cardiovascular problems Chronic myeloid leukaemia Treatable with Gleevec in 90% cases Muscular dystrophy (MD)/ Muscle break down Down syndrome...