AN 11-YEAR-OLD BOY WITH DOWN SYNDROME PHENOTYPE AND PARTIAL DUPLICATION IN 21Q11.2-Q21 REGION

• Authors: PAWEŁ J. CHOMIAK , MAGDALENA JANECZKO
• Languages of publication: EN PL

Abstracts

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.

Keywords

EN

DOWN SYNDROME; HR-CGH; PARTIAL DUPLICATION; QUANTITIVE FLUORESCENT REAL TIME PCR

Discipline

• GENETICS: GENETICS

• Journal: Zeszyty Naukowe Towarzystwa Doktorantów Uniwersytetu Jagiellońskiego. Nauki Ścisłe
• Year: 2011
• Issue: 3
• Pages: 53-57

Contributors

author

PAWEŁ J. CHOMIAK

• UNIWERSYTET JAGIELLOŃSKI

author

MAGDALENA JANECZKO

• UNIWERSYTET JAGIELLOŃSKI

References

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• Document Type: article