A Partial Trisomy 2p(p21→pter) Derived from a Paternal t(2;4)(p21;q33) Karyotype

Mahjoubi, F; Zolfagary, N

doi:10.2478/v10034-010-0017-5

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.

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A Partial Trisomy 2p(p21→pter) Derived from a Paternal t(2;4)(p21;q33) Karyotype

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