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FB38A107d01 - clinical cytogenetics and prenatal diagnosis...

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clinical cytogenetics and prenatal diagnosis: 26/11 & 10/12 cytogenetics square4 karyotyping square4 numerical aberrations square4 structural aberrations translocations deletions square4 molecular cytogenetic techniques FISH M-FISH CGH array CGH
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genomic disorders square4 cytogenetic aberrations chromosomal rearrangements ~10Mb karyotyping square4 molecular cytogenetic aberrations submicroscopical chromosomal rearrangements ~100Kb FISH, arrayCGH square4 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 square4 better management and estimation of the prognosis square4 accurate estimation of recurrence risk square4 brings relief to parents, family and caretakers scientific importance square4 human morbid map square4 functional annotation of the human genome square4 prevention and treatment
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clinical cytogenetics square4 study of chromosomes, their structure and inheritance square4 microscopically detectable chromosomal aberrations: ~100 clinical conditions square4 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: square4 >1% of all live births square4 ~2% of newborns (mothers >35 years of age) square4 ½ of all spontaneous miscarriages (first trimester) indications square4 unexplained mental retardation square4 congenital malformations, dysmorphic features square4 miscarriage, mors in utero or neonatal death square4 pregnancy –maternal age square4 reduced fertility square4 segregation of a chromosomal aberration in the family square4 disturbed pubertal development
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karyotyping: procedure blood sample short term culture (37 ° C, 48-72hr)) digital image acquisition karyotype PHA-stimulation mitotic arrest (colchicin) hypotonic treatment fixation banding
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metaphase finding and image acquisition
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chromosomes: ultrastructure
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karyotyping
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