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GENATLAS PHENOTYPE |
last update : 15-11-2022 |
Symbol | WHS |
Location | 4p16.3 |
Name | Wolf-Hirschhorn syndrome |
Other name(s) | monosomy 4p, del 4p, 4p- |
Corresponding gene | WHSC1 , WHSC2 , SLBP |
Other symbol(s) | DEL4P, WHCR, WHSCR, PRDS |
Main clinical features |
|
Genetic determination | chromosomal |
Prevalence | frequency estimated as 1/50,000-1/20,000 births, with a female predilection of 2:1. |
Related entries | see WHSCR for small or cryptic deletions |
Function/system disorder | multisystem/generalized |
mental retardation | |
Type | MCA/MR |
Gene product |
Name | WHSC1 might function as a chromatin remodelling enzyme |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
|  
| deletion
| haploinsufficiency
| large 4p deletion of several megabases usually detected by conventional cytogenetics
|  
| translocation
| haploinsufficiency
| recurrent t(4;8)(p16;p23)translocation mediated by olfactory receptor-gene clusters, unbalanced form
|  
| translocation
|  
| aCGH studies indicates a high prevalence of unbalanced translocations as high as 45 percent
| |
Remark(s) | contiguous gene syndrome with an unknown number of genes contributing to the phenotype; no single gene deletions or intragenic mutations have been shown to confer the full WHS phenotype |
Genotype/Phenotype correlations | microdeletions detected by FISH (WHCR probe) have a milder phenotype (see WHSCR); three different categories of the WHS phenotype were defined, generally correlating with the extent of the 4p deletion: small deletions not exceeding 3.5 Mb, that are usually associated with a mild phenotype, lacking major malformations, large deletions, averaging between 5 and 18 Mb, causing the widely recognizable WHS phenotype, and very large deletions exceeding 22–25Mb causing a severe phenotype, that can hardly be defined as typical WHS |