Wolf-Hirschhorn syndrome (WHS) results from a deletion of part of chromosome 4p. The region of 4p consistently deleted in WHS is near the tip of 4p. Two loci in this region D4S95 and D4S125 are associated with highly informative VNTR polymorphisms and were recently converted to allow PCR-based screening. PCR analysis was used successfully to identify a small de novo deletion of 4p in a patient suspected of having WHS. This procedure allows a rapid and accurate confirmation of 4p deletions in cases where cytogenetics alone cannot provide a clear answer.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/ajmg.1320440413 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Loss of function in causes DNA methylation signature similar to that in Wolf-Hirschhorn syndrome.
Genet Med Open
March 2024
Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
Purpose: Wolf-Hirschhorn syndrome (WHS), a contiguous gene syndrome caused by heterozygous deletions of the distal short arm of chromosome 4 that includes , reportedly causes specific DNA methylation signatures in peripheral blood cells. However, the genomic loci responsible for these signatures have not been elucidated. The present study aims to define the loci underlying WHS-related DNA methylation signatures and explore the role of in these signatures.
View Article and Find Full Text PDFHypoglossal Nerve Stimulation Outcomes in Pediatric Trisomy 21 Patients with Overweight or Obesity.
Laryngoscope
November 2024
Department of Otolaryngology, Head and Neck Surgery, Mayo Clinic, Phoenix, Arizona, U.S.A.
Objectives: To assess the impact of body mass index (BMI) on hypoglossal nerve stimulator (HNS) implantation outcomes in pediatric patients with Down syndrome (DS). We compare outcomes of HNS implantation when comparing children based on overweight or obese status.
Methods: Retrospective cohort study of patients at a single tertiary pediatric hospital who underwent HNS implantation between 2022 and 2024.
A familial chromosome 4p16.3 terminal microdeletion that does not cause Wolf-Hirschhorn (4p-) syndrome.
Chromosome Res
November 2024
Department of Clinical Genomics, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA.
Chromosome 4p16.3 microdeletions are known to cause Wolf-Hirschhorn syndrome (WHS), which is characterized by a distinct craniofacial gestalt and multiple congenital malformations. The 4p16.
View Article and Find Full Text PDFSuccessful Anesthetic Management of a Pediatric Patient With Wolf-Hirschhorn Syndrome Undergoing Strabismus Surgery: A Case Report.
Cureus
September 2024
Anesthesiology, Lebanese American University Medical Center, Beirut, LBN.
Article Synopsis
- Wolf-Hirschhorn syndrome (WHS) is a rare genetic disorder linked to a microdeletion on chromosome 4p, leading to unique facial characteristics, growth delays, various levels of intellectual disabilities, epilepsy, and heart issues.
- Anesthetic management for children with WHS is complex and needs to be customized due to the syndrome's multisystem effects, and there's no definitive best practice yet.
- An eight-year-old WHS patient undergoing strabismus surgery was successfully managed using a supraglottic device, overcoming concerns of difficult intubation and minimizing aspiration risks.
Incidence of hip problems in developmental central hypotonia: A scoping review.
Dev Med Child Neurol
October 2024
Department of Clinical Sciences, Orthopaedics, Lund University, Lund, Sweden.
Article Synopsis
- The study aims to explore hip problems in individuals with developmental central hypotonia, focusing on various rare genetic disorders while excluding Down syndrome.
- It analyzed 89 articles, ultimately including 79 that covered 544 subjects aged from infancy to 63 years, revealing that many of these syndromes are linked to hip structural or stability issues starting from birth, which worsen over time.
- The findings suggest that children with notable hypotonia should undergo specific ultrasound screenings and regular orthopedic evaluations to monitor and address potential hip issues that might not be detected through standard neonatal assessments.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!