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Markus S, Hehr U  
Genetic Counseling and Testing Prior to Assisted Reproduction

Journal für Reproduktionsmedizin und Endokrinologie - Journal of Reproductive Medicine and Endocrinology 2009; 6 (1): 6-10

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Abbildung
 
Female karyotype
Abbildung 1: Female karyotype showing a reciprocal balanced translocation between the short arm of chromosome 1 and the long arm of chromosome 16 (arrows indicate derivative chromosomes).


Keywords: Chromosomchromosomefemale karyotypeReproduktionsmedizinweiblicher Karyotyp
 
 
Female Karyotype
Abbildung 2: Female karyotype showing a Robertsonian translocation between chromosomes 13 and 14 (arrow indicates derivative chromosome resulting from Robertsonian translocation).


Keywords: Chromosomchromosomefemale karyotypeReproduktionsmedizinweiblicher Karyotyp
 
 
AZF deletion
Abbildung 3: Molecular diagnostic of AZF deletion: after PCR the products are separated on an agarose gel showing specific bands. Absence of a band indicates a deletion (dot indicates deleted band).


Keywords: DZFGenetikPCRReproduktionsmedizin
 
 
PCR
Abbildung 4a-b: (a) Electrophoretic separation of a sequencing reaction of a PCR product of exon 10 of the CFTR gene from a heterozygous mutation carrier of the common CFTR mutation DeltaF508. The mutant allele has a deletion of 3 basepairs (CTT), resulting in a deletion of the amino acid phenyl alanine at position 508 of the wildtype CFTR gene product. (b) Electrophoretic separation of the PCR product with the smaller mutant CFTR allele to the left, wildtype allele to the right.


Keywords: PCRReproduktionsmedizin
 
 
 
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