Name the chromosomes that are numbered in wrong order; i.e. longer than their preceding chromosome.
12 (longer than 10 and 11) and 22 (longer than 21).
What is the typical sequence found in telomeres?
Can you name some examples of genes discovered through cytogenetic abnormalities?
1. Rb - retinoblastoma: 13q- syndrome
2. APC: del(5)(q22-q23)
3. betaAPP - Alzheimer's: +21
4. Elastin - Williams Syndrome: del7q11.23
5. NSD1 - Sotos Syndrome: t(5;8)(q35;q24.1)
6. Waardenburg locus 2q35 - inv(2)(q35q27.3)
7. TSC2 locus: 45,der(16)t(16;22)
What is a neocentromere (analphoid centromere)?
Atypical centromeres that spontaneously form on unique sequences; first found in supernumerary marker chromosomes, gives them mitotic stability; functionally and structurally similar to endogenous centromeres, but lacks the added complication of underlying repetitive sequences, for ex. lacks alpha satellite DNA, hence the name an-alph-oid.
What is the resolution (minimum length of rearrangements discernible) in a 400-550 band karyotype?
What is the most common recurrent translocation in humans?
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