unbalanced rearrangements - example the karyotype shown on...

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unbalanced rearrangements deletions Deletions may either be either interstitial or terminal. If big enough to be visible a deletion must be removing many genes and will probably give rise to a severe phenotype. See above . An example of an interstitial deletion is the 15q - deletion which causes either Angelman or Prader-Wili syndromes. Many independent deletions in this region do indeed remove many genes including the two responsible for the two syndromes. You will find many more examples, try for instance searching OMIM with the acronym WAGR (which stands for W ilms tumour, A niridia, ambiguous G enitalia and mental R etardation). See also the table on page 129 of Connor and Ferguson-Smith Terminal deletions have only one breakpoint, they extend to the telomere. For
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Unformatted text preview: example the karyotype shown on the right is of a baby with Cri du chat syndrome in which a small part of the distal region of the short arm of chromosome 5 is deleted. Babies with this syndrome have a combination of symptoms which include pinched facial features, mental retardation and developmental delay. The characteristic feature, for which the syndrome is named is a "mewing" cry. The charateristic cry may be separated genetically from the facial dysmorphology and developmental delay, since a small terminal deletion may have the cry only whereas a larger deletion extending further towards the centromere will include the genes whose hemizygosity is responsible for the other syptoms....
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