Article Text

PHENOTYPE OF A PATIENT WITH PURE PARTIAL TRISOMY 2P(P21→PTER)
  1. F Mahjoubi1
  1. 1Clinical Genetic Department, National Institute of Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran

Abstract

We present the case of a 7-year-old boy with the additional material on 4q. The father karyotype confirmed that the additional segment on 4q was of chromosome 2p origin, resulting in trisomy 2p21→2pter. The karyotype of the proband was found as 46, XY, der(4)t(2;4)(p21;q33) pat.

His father’s karyotype was 46, XY, t(2;4)(p21;q33). The mother had normal karyotype. The child was found to have dysmorphic facial features, prominent ears, long fingers, short stature, tenar and hypo tenar atrophy, crowded teeth, high arch palate, prognathism mild nasa bridge, large testes, developmental delay, speech delay and seizer. This case will be compared with other reported cases of partial trisomy/duplication of 2p.

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