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Wolf-Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions.

European Journal of Human Genetics, 2008


Wolf-Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions.
Hengbers@umcutrecht.nl Abstract We report on a patient with developmental delay and several facial characteristics reminiscent of Wolf-Hirschhorn syndrome, who carries a terminal 4p16.3 deletion of minimally 1.691 Mb and maximally 1.698 Mb.
Given its expression pattern and its involvement in bone and cartilage formation during embryonic development, the FGFRL1 gene represents a plausible candidate gene for part of the facial characteristics of Wolf-Hirshhorn syndrome in 4p16.3 deletion patients.
PMID: 18830230 [PubMed - indexed for MEDLINE] PMCID: PMC2985965 Images from this publication.
Figure 1 Genomic map of the 4p terminal region, showing location and size of the analysed BAC probes and SNP array results (minimal and maximal deletion).
( a ) Downturned corners of the mouth and short philtrum are well seen (1.9 years), ( b ) patient from frontal; big eyes and short philtrum are well seen (2 years), ( c and d ) patient from frontal and aside (4.4 years).
The SNP array analysis showed a terminal deletion of minimally 1.691.452 bp and maximally 1.698.167 bp.
The red arrow demonstrates the FGFRL1 gene, a plausible candidate gene for part of the facial characteristics of Wolf–Hirschhorn syndrome in 4p16.3 deletion patients.
Interstitial microdeletion of 4p16.3: contribution of WHSC1 haploinsufficiency to the pathogenesis of developmental delay in Wolf-Hirschhorn syndrome.
Submicroscopic duplication of the Wolf-Hirschhorn critical region with a 4p terminal deletion.