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BIBTEX RIS

A patient with Wolf-Hirschhorn syndrome originating from translocation t(4;8) (p16.3;q24.3)pat.

1995; BMJ; Volume: 32; Issue: 1 Linguagem: Inglês

10.1136/jmg.32.1.65

ISSN

1468-6244

Autores

Wael El‐Rifai, Jaakko Leisti, M. Kähkönen, Ahti‐Veikko Pietarinen, Michael R. Altherr, Sakari Knuutila,

Tópico(s)

Cancer Genomics and Diagnostics

Resumo

We present here a 7 year old girl with the clinical signs of Wolf-Hirschhorn syndrome (WHS). Only on high resolution banding was a deletion of 4p16.3 suspected in both the proband and the father. Further studies using simultaneous R banding and FISH, with cosmid probe pc847.351 containing the mildly repetitive fragment 847-EC, confirmed the diagnosis and showed a paternal balanced translocation t(4;8)(p16.3;q24.3).

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