A patient with Wolf-Hirschhorn syndrome originating from translocation t(4;8) (p16.3;q24.3)pat.
case_report · Level V
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- Record sourced from PubMed, PMID 7897631.
- Also identified by PMC identifier 1050183.
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Abstract
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).
Medical subject headings
- Chromosome Aberrations
- Chromosome Deletion
- Chromosomes, Human, Pair 4
- Chromosomes, Human, Pair 8
- Translocation, Genetic