The Wolf‐Hirschhorn syndrome

Lurie, Iosif W.; Lazjuk, G. I.; Ussova, Y I; Presman, E B; Gurevich, D. B.

doi:10.1111/j.1399-0004.1980.tb00167.x

Cited by 117 publications

(39 citation statements)

References 31 publications

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“…The largest study (based on 108 cases) on the rate of unbalanced translocations in WHS indicated that approximately 13% of WHS cases had a derivative 4 due to a parental translocation and approximately 1.6% of cases had a de novo unbalanced translocation, making the total approximately 15%. 2 Other smaller studies (based on 22 -25 cases) have indicated that the rate of unbalanced …”

Section: Discussionmentioning

confidence: 99%

“…Different mechanisms leading to the deletion of 4p16.3 include cytogenetically visible de novo 4p terminal and interstitial deletions (50 -60%), de novo microdeletions detected by fluorescence in situ hybridization (FISH) using a probe for the critical region (25 -30%), or an unbalanced translocation either de novo or inherited from a familial balanced translocation (approximately 15%). 1,2 A portion of the clinical variation appears to be due to differences in the size of the deletion on 4p. 3 -5 However, many patients do not fit into a strict correlation between size of the deletion and severity of the syndrome.…”

Section: Introductionmentioning

confidence: 99%

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Comprehensive analysis of Wolf–Hirschhorn syndrome using array CGH indicates a high prevalence of translocations

et al. 2007

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Wolf-Hirschhorn syndrome (WHS) is caused by deletions involving chromosome region 4p16.3. The minimal diagnostic criteria include mild-to-severe mental retardation, hypotonia, growth delay and a distinctive facial appearance. Variable manifestations include feeding difficulties, seizures and major congenital anomalies. Clinical variation may be explained by variation in the size of the deletion. However, in addition to having a deletion involving 4p16.3, previous studies indicate that approximately 15% of WHS patients are also duplicated for another chromosome region due to an unbalanced translocation. It is likely that the prevalence of unbalanced translocations resulting in WHS is underestimated since they can be missed using conventional chromosome analyses such as karyotyping and WHS-specific fluorescence in situ hybridization (FISH). Therefore, we hypothesized that some of the clinical variation may be due to an unrecognized and unbalanced translocation. Array comparative genomic hybridization (aCGH) is a new technology that can analyze the entire genome at a significantly higher resolution over conventional cytogenetics to characterize unbalanced rearrangements. We used aCGH to analyze 33 patients with WHS and found a much higher than expected frequency of unbalanced translocations (15/33, 45%). Seven of these 15 cases were cryptic translocations not detected by a previous karyotype combined with WHS-specific FISH. Three of these 15 cases had an unbalanced translocation involving the short arm of an acrocentric chromosome and were not detected by either aCGH or subtelomere FISH. Analysis of clinical manifestations of each patient also revealed that patients with an unbalanced translocation often presented with exceptions to some expected phenotypes.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Comprehensive analysis of Wolf–Hirschhorn syndrome using array CGH indicates a high prevalence of translocations

et al. 2007

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“…It had been proven that the larger deletion, the more severe congenital deformities one presents [1,12,17]. The other congenital defects include muscle hypotonia and urinary tract malformations (such as renal agenesis, oligomeganephronia, bladder exstrophy, cystic dysplasia/hypoplasia and obstructive uropathy) [18].…”

Section: Congenital Defectsmentioning

confidence: 99%

Wolf-Hirschhorn Syndrome (WHS) – Literature Review on the Features of the Syndrome

Paradowska-Stolarz¹

2014

Adv Clin Exp Med

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Wolf-Hirschhorn syndrome (WHS) is a congenital disorder associated with 4 chromosome microdeletion. The patients suffer from various deformities. Among them, mental and growth retardation, even in the fetus, are observed. Most of the characteristics concern facial features. The "Greek warrior helmet appearance" is the most characteristic feature and refers to the facial view with prominent glabella, high arched eyebrow, broad nasal bridge and hypertelorism. Another characteristic feature is microcephalia with micrognathia. The features are more pronounced in infants. Clefts of lip and/or palate are observed in almost half of the cases. The characteristic thing is that the more genetic material is missing, the more pronounced are the dimorphic features of the syndrome. Mostly, the dental status does not differ much from that of the healthy individuals. It had been proven though that WHS-patients are more prone to anomalies in dental structures. Cone-shaped and taurodontic teeth were observed. Multiple tooth agenesis (mainly at premolars and molars) with over-retained deciduous dentition might be associated with MSX1-gene impairment (Adv Clin Exp Med 2014, 23, 3, 485-489).

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“…4 Previously, approximately 75% of cases were considered to be due to de novo terminal deletions, 5,6 13% from unbalanced translocations and the remainder from a more unusual cytogenetic abnormality. More recent studies have suggested the relative frequencies of deletions, unbalanced translocations and other causes to be 55%, 40% and 5%, respectively.…”

Section: Wolf-hirschhorn Syndrome (Whs; Omim 194190) Is a Contiguous mentioning

confidence: 99%

Fine-grained facial phenotype–genotype analysis in Wolf–Hirschhorn syndrome

Hammond¹,

Hannes

Suttie³

et al. 2011

Eur J Hum Genet

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Wolf-Hirschhorn syndrome is caused by anomalies of the short arm of chromosome 4. About 55% of cases are due to de novo terminal deletions, 40% from unbalanced translocations and 5% from other abnormalities. The facial phenotype is characterized by hypertelorism, protruding eyes, prominent glabella, broad nasal bridge and short philtrum. We used dense surface modelling and pattern recognition techniques to delineate the milder facial phenotype of individuals with a small terminal deletion (breakpoint within 4p16.3) compared to those with a large deletion (breakpoint more proximal than 4p16.3). Further, fine-grained facial analysis of several individuals with an atypical genotype and/or phenotype suggests that multiple genes contiguously contribute to the characteristic Wolf-Hirschhorn syndrome facial phenotype.

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The Wolf‐Hirschhorn syndrome

Cited by 117 publications

References 31 publications

Comprehensive analysis of Wolf–Hirschhorn syndrome using array CGH indicates a high prevalence of translocations

Comprehensive analysis of Wolf–Hirschhorn syndrome using array CGH indicates a high prevalence of translocations

Wolf-Hirschhorn Syndrome (WHS) – Literature Review on the Features of the Syndrome

Fine-grained facial phenotype–genotype analysis in Wolf–Hirschhorn syndrome

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