FB38A107d01 - clinical cytogenetics and prenatal diagnosis:...

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cytogenetics s karyotyping s numerical aberrations s structural aberrations translocations deletions s molecular cytogenetic techniques FISH M-FISH CGH array CGH
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genomic disorders s cytogenetic aberrations chromosomal rearrangements ~10Mb karyotyping s molecular cytogenetic aberrations submicroscopical chromosomal rearrangements ~100Kb FISH, arrayCGH s molecular aberrations ‘mutations’ ~1bp mutation analysis
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cytogenetics - a historical perspective 1982 1968 Q-banding 1997 1956 46 chromosomes 1972 1992 2007
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cytogenetics - a historical perspective 1982 1968 Q-banding 1997 1956 46 chromosomes HR-banding 1972 1992 2007
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cytogenetics - a historical perspective 1982 1968 FISH Q-banding 1997 1956 46 chromosomes HR-banding 1972 1992 2007
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cytogenetics - a historical perspective 1982 1968 FISH Q-banding 1997 arrayCGH 1956 46 chromosomes HR-banding 1972 CGH 1992 2007
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cytogenetics a diagnosis is the cornerstone for accurate genetic counseling s better management and estimation of the prognosis s accurate estimation of recurrence risk s brings relief to parents, family and caretakers scientific importance s human morbid map s functional annotation of the human genome s prevention and treatment
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clinical cytogenetics s study of chromosomes, their structure and inheritance s microscopically detectable chromosomal aberrations: ~100 clinical conditions s major role in: cancer miscarriages mental retardation congenital malformations → karyotyping: important laboratory test in clinical medicine
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clinical cytogenetics - karyotyping chromosomal aberrations: s >1% of all live births s ~2% of newborns (mothers >35 years of age) s ½ of all spontaneous miscarriages (first trimester) indications s unexplained mental retardation s congenital malformations, dysmorphic features s miscarriage, mors in utero or neonatal death s pregnancy – maternal age s reduced fertility s segregation of a chromosomal aberration in the family s disturbed pubertal development
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This note was uploaded on 05/28/2010 for the course WE BIBI000000 taught by Professor Johangrooten during the Spring '10 term at Ghent University.

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FB38A107d01 - clinical cytogenetics and prenatal diagnosis:...

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