Biaduń- Popławska Anna
Poland
Short Communication
Down Syndrome Phenotype in a Child with Partial Trisomy of Chromosome 21 and Paternally Derived Translocation t (20p; 21q)
Author(s): Biaduń- Popławska Anna, Jamsheer Aleksander, Henkelman Małgorzata, Tuziak Martyna, Pietrzyk Aleksandra, Piotrowski Krzysztof, Giżewska Maria, Walczak Mieczysław and Zajączek StanisławBiaduń- Popławska Anna, Jamsheer Aleksander, Henkelman Małgorzata, Tuziak Martyna, Pietrzyk Aleksandra, Piotrowski Krzysztof, Giżewska Maria, Walczak Mieczysław and Zajączek Stanisław
We present a case of the partial trisomy of chromosome 21 encompassing Down Syndrome Critical Region (DSCR) accompanied by 20p13 deletion. Patient’s karyotype was determined as: 46, XY, der20t (20,21) (21qter- >21q22::20p13->21qter)pat. The boy presented nearly all typical features of Down syndrome but no specificsigns described in rare cases of patients with deletion 20p13. Microarray- CGH analysis has shown that trisomic segment contained DSCR whereas 20p deleted segment did not contain JAG1 gene. Clinical data of our patient was compared with the data available for other 48 patients carrying similar chromosomal microaberrations.
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