From Pitt-Rogers-Danks syndrome to Wolf-Hirschhorn syndrome and back?

American Journal of Medical Genetics
Marcella ZollinoGiovanni Neri

Abstract

Apparently normal chromosomes without a molecular 4p16.3 deletion were found in a patient with a Wolf-Hirschhorn syndrome (WHS) phenotype. During a 10-year-period of observation he consistently presented with typical facial appearance, moderate to severe mental retardation, normal physical development with normal head circumference. Genetic results and the relatively mild clinical manifestations suggest that a diagnosis of Pitt-Rogers-Danks syndrome (PRDS) may be more likely in this patient. If WHS and PRDS will ultimately prove to be caused by haploinsufficiency of the same gene in 4p16, non-deleted patients such as the present one will be good candidates for the search of point mutations in such putative gene.

References

Jul 17, 1995·American Journal of Medical Genetics·L L EstabrooksA S Aylsworth
Dec 2, 1996·American Journal of Medical Genetics·M ClemensE McPherson
Dec 2, 1996·American Journal of Medical Genetics·D Donnai
Dec 2, 1996·American Journal of Medical Genetics·M C Lindeman-KusseH G Brunner

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Citations

May 23, 1998·Journal of Medical Genetics·M M Cohen, G Neri
Sep 20, 2000·American Journal of Medical Genetics·M ZollinoG Neri
Mar 3, 1998·American Journal of Medical Genetics·T J WrightM R Altherr

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