F5AB1532d01 - 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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chromosomal aberrations numerical aneuploidy structural aneuploidy s translocation s deletion s inversion s insertion s duplication
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translocations s balanced or reciprocal: no net change in genetic content s carrier: 1/500 s pathogenic properties: disruption of genes in the vicinity of the chromosomal breakpoints s increased risk for unbalanced progeny
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translocations 46,X,t(X;9)(q12;p13.3) s ‘der’: derivative chromosome der(9) X der(X) 9
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translocations: segregation s prophase of meiosis I: formation of a quadrivalent in order to obtain optimal synapsis
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translocations: segregation s implantation, viability and fenotype: dependent on deleted and duplicated regions
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translocations: segregation s illustration: partial trisomy 9p and monosomy Xp in the child of a carrier of a balanced t(X;9)
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Robertsonian translocation s translocation involving acrocentric chromosomes 45,XX,der(13;14)(q10;q10)
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Robertsonian translocation translocation carrier partner gametes translocation carrier trisomy 21 monosomy 21 not viable monosomy 14 not viable normal karyotype trisomy 14 not viable offspring
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translocations: segregation carriers of a balanced translocation: s usually no phenotypical aberrations (unless disruption of genes in the vicinity of the chromosomal breakpoints) s reduced fertility s recurrent miscarriage s children with multiple congenital abnormalities and mental retardation children - unbalanced karyotype: s phenotype: dependent on the genetic content of the deleted and duplicated regions
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deletions and duplications s 2 breaks in the same chromosome arm leading to gain or loss of the region in between
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microdeletion syndromes s genomic disorder caused by a small chromosomal deletion s loss or haploinsufficiency of several genes located in the deleted region (‘contiguous gene syndromes’) s associated with a characteristic combination of physical and mental abnormalities s usually not detectable by conventional cytogenetics s detection: FISH (specific) - discovery: arrayCGH (genome wide) s mental retardation: proportional to the size of the deleted segment
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microdeletion syndromes localisation condition 7q11.2 Williams syndrome 8q24 Langer Gideon syndrome
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F5AB1532d01 - clinical cytogenetics and prenatal diagnosis:...

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