A PARTIAL TRISOMY 2p(p21->pter) DERIVED FROM A PATERNAL t(2;4)(p21;q33) KARYOTYPE Mahjoubi F1,*, Zolfagary N2 *Corresponding Author: Dr. Frouzandeh Mahjoubi, Clinical Genetic Department, National Research Institute of Genetic Engineering and Biotechnology, Pajoohesh Blvd., Karaj High Way, P.O. Box 14155-6343, Tehran, Iran; Tel.: +9821-4580389; Fax: +9821-4580399; E-mail: Frouz@nigeb.ac.ir page: 41 download article in pdf format
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Abstract
We describe a 7-year-old boy with additional material on 4q whose karyotype was 46,XY,der(4)t(2;4)(p21:q33). The father’s karyotype was 46,XY,t(2;4)(p21;q33) and the mother’s was normal. These results indicate that the extra material on 4q in the patient originated from the father’s chromosome 2p. The patient had dysmorphic facial features, prominent ears, long fingers, developmental delay, speech delay and suffered from seizures.
Key words: Trisomy 2p, Dysmorphic facial features
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