ReviewMolecular genetics & genomic medicine2021
Clinical and genetic characterization of ten Egyptian patients with Wolf-Hirschhorn syndrome and review of literature.
Review in Molecular genetics & genomic medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it, 14 citations in OpenAlex.
- Exploring the role of non-coding RNAs in atrial septal defect pathogenesis: A systematic review.PloS one · 2024Pooled it
- Wolf-Hirschhorn syndrome with growth hormone deficiency: long-term response to RhGH therapy.Hormones (Athens, Greece) · 2026Review
- Article
- Classification of Brain Magnetic Resonance Imaging Abnormalities and Spectrum of Neurological Findings in a Cohort with Copy Number Variation-Related Disorders.Molecular syndromology · 2025Article
- Incidence of hip problems in developmental central hypotonia: A scoping review.Developmental medicine and child neurology · 2025Article
- A Unique Derivative Chromosome 4 with a Predominant 4p16.3 Microduplication Phenotype and a Literature Review.Molecular syndromology · 2025Article
- Prenatal phenotype of Wolf-Hirschhorn syndrome: A case series and literature review.Molecular genetics & genomic medicine · 2023Review
- Full etiologic spectrum of pediatric severe to profound hearing loss of consecutive 119 cases.Scientific reports · 2022Article
- Distinct Epileptogenic Mechanisms Associated with Seizures in Wolf-Hirschhorn Syndrome.Molecular neurobiology · 2022Article
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Authors and funding
16 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundWolf-Hirschhorn syndrome (WHS) (OMIM 194190) is a multiple congenital anomalies/intellectual disability syndrome. It is caused by partial loss of genetic material from the distal portion of the short arm of chromosome.
methodsWe studied the phenotype-genotype correlation.
resultsWe present the clinical manifestations and cytogenetic results of 10 unrelated Egyptian patients with 4p deletions. Karyotyping, FISH and MLPA was performed for screening for microdeletion syndromes. Array CGH was done for two patients. All patients exhibited the cardinal clinical manifestation of WHS. FISH proved deletion of the specific WHS locus in all patients. MLPA detected microdeletion of the specific locus in two patients with normal karyotypes, while array CGH, performed for two patients, has delineated the extent of the deleted segments and the involved genes. LETM1, the main candidate gene for the seizure phenotype, was found deleted in the two patients tested by array CGH; nevertheless, one of them did not manifest seizures. The study emphasized the previous.
conclusionWHS is a contiguous gene syndrome resulting from hemizygosity of the terminal 2 Mb of 4p16.3 region. The Branchial fistula, detected in one of our patients is a new finding that, to our knowledge, was not reported.
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