Clinical Genetics

1. A haplotype is the arrangement of alleles along an individual chromosome (6, 9)
5. Repeats of a chromosomal region that lie adjacent to each other in either the same or reverse order (4, 3, 6, 7)
6. Meisosis 1 heterozygote pairing, formation of a cross shaped configuration most clearly seen at pachytene. No mechanism to ensure equal distribution of material between daughter cells. (12)
7. 45 X, short stature, renal abnormalities, missing X usually paternal copy, nuchal translucency, neck webbing, lymphoedema, gonadal dysgenesis, infertility, decreased IQ speech language delay (6, 8)
10. Alternate chromosomes with different centromeres goes alternately to one or other gamete. Always results in BALANCED gametes (9, 11)

2. The process or act of exchanges of genes between chromosomes, resulting in a different genetic combination and ultimately to the formation of unique gametes with chromosomes that are different from those in parents. (13)
3. Between repeats on the same chromosome (interchromosomal), two sister chromatids, different chromosomes and different regions on the same chromatid (intrachromatidal) (4, 3, 5)
4. Restriction fragment length polymorphism, he DNA sample is broken into pieces and (digested) by restriction enzymes and the resulting restriction fragments are separated according to their lengths by gel electrophoresis (4, 2, 4)
5. Repetitive non-coding sequences, some of which contain centromeres. DNA sequences forming separate fraction when genomic DNA is separated along a density gradient due to distinct buoyant density; predominantly localised in telomeres and centromeres (4, 2, 9, 3)
9. Penetrance in genetics is the proportion of individuals carrying a particular variant (or allele) of a gene (the genotype) that also express an associated trait (the phenotype). (10)

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