CHARACTERIZING THE BASIC GENETIC DEFECT IN WOLF-HIRSCHHORN SYNDROME WITH RESPECT TO PHENOTIPIC IMPLICATIONS
- 2 Years 2004/2006
- 99.000€ Total Award
The relevance of this project is related to: 1)proper diagnostic protocol and counseling in WHS; 2) definition of additional, currently unkown, genetic factors that account for the final phenotype; 3)clarify the role of the common inversion polymorphisms in generating common genomic rearrangements; 4)improve the general knowledge of WHS.
Scientific Publications
- 2004 EUROPEAN JOURNAL OF HUMAN GENETICS
A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome
- 2008 JOURNAL OF MEDICAL GENETICS
The terminal 760 kb region on 4p16 is unlikely to be the critical interval for growth delay in Wolf-Hirschhorn syndrome
- 2007 HUMAN GENETICS
Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16
- 2007 AMERICAN JOURNAL OF MEDICAL GENETICS PART A
The first 4p euchromatic variant in a healthy carrier having an unusual reproductive history
- 2005 AMERICAN JOURNAL OF MEDICAL GENETICS PART A
The new Wolf-Hirschhorn syndrome critical region (WHSCR-2): A description of a second case
