<abstract xml:lang="en" xmlns="http://www.w3.org/1999/xhtml"><p>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.</p></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.

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

Clinical Genetic Department, National Institute of Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran

Tehran Medical Genetic Laboratory, Tehran, Iran

Balkan Journal of Medical Genetics

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,...

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

Pubblicato online: 25 ago 2010

Pagine: 39 - 43

DOI: https://doi.org/10.2478/v10034-010-0017-5

Parole chiave
Trisomy 2p, Dysmorphic facial features

This content is open access.

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

Pubblicato online: 25 ago 2010

Pagine: 39 - 43

DOI: https://doi.org/10.2478/v10034-010-0017-5

Parole chiaveTrisomy 2p, Dysmorphic facial features

This content is open access.

Parole chiave
Trisomy 2p, Dysmorphic facial features