A patient with Wolf-Hirschhorn syndrome originating from translocation t(4;8) (p16.3;q24.3)pat.
- 1 January 1995
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 32 (1) , 65-67
- https://doi.org/10.1136/jmg.32.1.65
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).Keywords
This publication has 19 references indexed in Scilit:
- Simultaneous Detection of High-Resolution R-Banding and Fluorescence in Situ Hybridization Signals After Fluorouracil-Induced Cellular SynchronizationHereditas, 2004
- Interstitial deletion of distal chromosome 4p in a patient without classical Wolf‐Hirschhorn syndromeAmerican Journal of Medical Genetics, 1993
- Clinical, cytogenetic and molecular investigations in three patients with Wolf‐Hirschhorn syndromeClinical Genetics, 1992
- Paternal origin of the de novo deleted chromosome 4 in Wolf-Hirschhorn syndrome.Journal of Medical Genetics, 1992
- Paternal origin of the chromosomal deletion resulting in Wolf-Hirschhorn syndrome.Journal of Medical Genetics, 1991
- Isolation of a novel mildly repetitive DNA sequence that is predominantly located at the terminus of the short arm of chromosome 4 near the Huntington disease geneGenomics, 1989
- Delineation of individual human chromosomes in metaphase and interphase cells by in situ suppression hybridization using recombinant DNA librariesHuman Genetics, 1988
- Deletion of Huntington's disease-linked G8 (D4S10) locus in Wolf–Hirschhorn syndromeNature, 1985
- A taxonomic approach to the del(4p) phenotypeAmerican Journal of Medical Genetics, 1985
- The critical monosomic segment involved in 4p- syndrome: A high-resolution banding study on five inherited casesJournal of Human Genetics, 1984