On two patients with and without the classical Wolf-Hirschhorn syndrome (WHS) sharing the same chromosome 4p16.3 specific probe deletion: evidence of a contiguous gene deletion syndrome.
We report here on phenotype-karyotype correlations in two patients with and without complete features of the WHS but sharing the lack of a specific cosmic probe (D4S96/D4Z1) from 4p16.3. These findings indicate that WHS is true a contiguous gene deletion syndrome in nature and expression.
Centre for Human Genetics, University of Leuven, Belgium.
P
P
Petit
J
J
Schmit
H
H
Van den Berghe
J P
JP
Fryns
D000015:Abnormalities, Multiple / Q000209:etiology / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000818:Animals; D002648:Child; D002675:Child, Preschool; D002871:Chromosome Banding; D002894:Chromosomes, Human, Pair 4; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D015342:DNA Probes; D005124:Eye Abnormalities / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006330:Heart Defects, Congenital; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D051379:Mice / Q000002:abnormalities; D011247:Pregnancy
D015342:DNA Probes