disorders genetic
Terms
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- explain a robertsonian translocation
- 45, xy, der(13;21)(q10;q10) two chromosomes crossed over at the centromere missing the p arms
- list acrocentric chromosomes
- 13,14,15,21,22
- what causes down syndrom
- trisomy 21
- if someone is missing a sex chromosome, x or y, what syndrome is it?
- turner
- wolf hirschorn syndrome is caused by what chromosomal abnormality
- a deletion del4p15.3
- greek helmet faces, intrauterine growth, retardation, microcephaly and hypotonia describe what disorder
- wolf-hirschorn
- what chromosomal abnormality causes charcot marie tooth disease
- duplication
- hereditary neuropathy describes what disorder
- charcot marie tooth disease
- list structural chromosomal abnormalities
- deletion, duplication, insertion, translocation, inversion, isochromosome, ring chromosome
- name a type of unbalance rearrangement
- insertion
- are translocations balanced or unblanaced
- balanced
- what is the risk of passing on a derivative chromosome
- 2-12% in males and 4-24% in females
- when do inversions occur?
- during recombination
- what do inversions predispose for?
- duplication and deletion during recombination
- if the recombination event involves centromeres what are some risks
- acentric or dicentric chromosomes disappear or are abnormal
- how do rings form on chromosomes
- the telomere caps are missing and the ends of DNA stick to each other.
- what abnormality causes diGeorge syndrome?
- deltion 22q11
- how can you detect diGeorge syndrome and why
- use FISH because it detects a deletion and that is pretty specific, fish is a good test
- name a disorder caused by a single point mutation
- neurofibromatosis
- two categories of micro deletion
- point mutations and larger missing chunks that are still to small to be seen cytogenetically
- how are microdeletions tested for
- FISH