Complete trisomy 5p owing to de novo translocation t(5;22)(q11;p11) with isochromosome 5p associated with a familial pericentric inversion of chromosome 2, inv 2(p21q11).

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Complete trisomy 5p owing to de novo translocation t(5;22)(q11;p11) with isochromosome 5p associated with a familial pericentric inversion of chromosome 2, inv 2(p21q11).

1983; BMJ; Volume: 20; Issue: 5 Linguagem: Inglês

10.1136/jmg.20.5.394

ISSN

1468-6244

Autores

E. Orye, Yves Benoît, B van Mele,

Tópico(s)

Chromosomal and Genetic Variations

Resumo

A boy with a de novo translocation (5;22) and isochromosome 5p associated with a pericentric inversion of chromosome 2 (p21q11) is described. The pericentric inversion was also present in the mother. The main clinical features of the 9complete trisomy 5p9 syndrome were present in the proband.

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Complete trisomy 5p owing to de novo translocation t(5;22)(q11;p11) with isochromosome 5p associated with a familial pericentric inversion of chromosome 2, inv 2(p21q11).