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

• Publisher: Towarzystwo Doktorantów. Uniwersytet Jagielloński
• 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

• 1. Hu Y., Zheng M., Xu Z., Wang X., Cui H., Quantitative real-time PCR technique for rapid prenatal diagnosis of Down syndrome, “Prenatal Diagn.” 2004; 24: 704-707.
• 2. Kirchhoff M., Rose H., Lundsteen C., High resolution comparative genomic hybridization in clinical cytogenetics, “J. Med. Genet.” 2001; 38: 740-774.
• 3. Korbel J.O., Tirosh-Wagner T., Urban A.E. Chen X.N., Kasowski M., Dai L., Grubert F., Erdman C., Gao M.C., Lange K., Sobel E.M., Barlow G.M., Aylsworth A.S., Carpenter N.J., Clark R.D., Cohen M.Y., Doran E., Falik-Zaccai T., Lewin S.O., Lott I.T., McGillivray B.C., Moeschler J.B., Pettenati M.J., Pueschel S.M., Rao K.W., Shaffer L.G., Shohat M., van Riper A.J., Warburton D., Weissman S., Gerstein M.B., Snyder M., Korenberg J.R., The genetic architecture of Down syndrome phenotypes revealed by highresolution analysis of human segmental trisomies, “Proc. Natl. Acad. Sci.” USA 2009, Jul 21; 106(29):12031-6.
• 4. McKinlay Gardner R.J., Sutherland G.R., Chromosome abnormalities and genetic counseling. Third edition, Oxford University Press 2004.
• 5. Schintzel A. Catalogue of unbalanced chromosome aberrations in man. 2nd edition, Berlin, New York, De Gruyter 2001.
• 6. Lyle R., Béna F., Gagos S., Gehrig C., Lopez G., Schinzel A., Lespinasse J., Bottani A., Dahoun S., Taine L., Doco-Fenzy M., Cornillet-Lefébvre P., Pelet A., Lyonnet S., Toutain A., Colleaux L., Horst J., Kennerknecht I., Wakamatsu N., Descartes M., Franklin J.C., Florentin-Arar L., Kitsiou S., Yahya-Graison E., Costantine C., Sinet P.-M., Delabar J.M., Antonarakis S.E., Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21, “European Journal of Human Genetics” 2009, 17: 454-466.

• Document Type: article