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OMÓWIENIE PROBLEMU WŁAŚCIWEJ INTERPRETACJI WYNIKÓW KARIOTYPU MOLEKULARNEGO PRZY PRÓBIE IDENTYFIKACJI OBSERWOWANYCH NIEZRÓWNOWAŻONYCH ABERRACJI CHROMOSOMOWYCH U PACJENTÓW Z NIESPECYFICZNĄ NIEPEŁNOSPRAWNOŚCIĄ INTELEKTUALNĄ ORAZ ZESPOŁEM MNOGICH WAD WRODZONYCH

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CHOMIAK P. J., PIETRZYK J. J.
Zeszyty Naukowe Towarzystwa Doktorantów Uniwersytetu Jagiellońskiego. Nauki Ścisłe
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2011
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issue 3
43-51
EN
Evaluation of the patient’s karyotype is the basis for proper genetic counseling, and thus also for a treatment or prevention to be taken. At present, cytogenetic laboratories have at their disposal a large number of diagnostic methods, including molecular karyotype analysis based on CGH procedures. The CGH methods allow to detect much smaller changes than conventional cytogenetic techniques such as a GTG method. Unfortunately, lack of direct analysis of patient’s chromosomes may lead to a distortion in interpreting the result. The following paper presents two cases illustrating the most common problems in interpreting the results of molecular karyotyping using the CGH procedure.
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AN 11-YEAR-OLD BOY WITH DOWN SYNDROME PHENOTYPE AND PARTIAL DUPLICATION IN 21Q11.2-Q21 REGION

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CHOMIAK P. J., JANECZKO M.
Zeszyty Naukowe Towarzystwa Doktorantów Uniwersytetu Jagiellońskiego. Nauki Ścisłe
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2011
|
issue 3
53-57
EN
We report a clinical case of an 11-year-old boy with de novo partial duplication of chromosome 21st pair and some clinical features of Down syndrome. Using hr – CGH method (high resolution Comparative Genomic Hybridization) we detected a quantitative change (a duplication) in 21q21 – q11.2 region. To confirmed the results of hr-CGH analysis we used Quantitative Fluorescent Real Time PCR method with four primers for two different genes located in duplication region.
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