Introduction: Wolf-Hirschhorn Syndrome (WHS) constitutes an illness of great neuropediatric interest. The correlation cariotype-phenotype in WHS is debated and two phenotypes one “classic” and other “half,” and two genes candidates WHSC 1 and WHSC 2 are reported.
Case report: in the present article we report the clinical and cytogenetics findings in a 13 year-old patient, with “sui generis” cariotype 46, XY, 4ps in high resolution chromosomal study with G bands and Nor techniques. The different clinical findings, cytogenetics studies and the correlation genotype-phenotype were reviewed and discussed according to the current knowledge.
Conclusions: The discovery of the chromosome 4 with satellites in patient with clinical manifestations of the syndrome, it constitutes an evidence that the SWH is the true syndrome for contiguous genes. The human genome and molecular markers studies in this case, give us light in the physiological and pathological roles of those genes WHSC 1 and WHSC 2, reported in the literature.
