Potocki-Lupski syndrome is a condition that results from having an extra copy of a small piece of chromosome 17 in each cell. A different condition, known as Smith-Magenis syndrome, results when a ...

Purpose: To develop a high resolution microarray based method to detect single- and multiexons gene deletions and duplications. Methods: We have developed a high-resolution comparative genomic ...

FMS-like tyrosine kinase 3 (FLT3) is mutated in approximately one third of acute myeloid leukemia cases. The most common FLT3 mutations in acute myeloid leukemia are internal tandem duplication (ITD) ...

Understanding the specific mutations that contribute to different forms of cancer is critical to improving diagnosis and treatment. But limitations in DNA sequencing technology make it difficult to ...

In a recent study published in the Genes journal, researchers assessed the impact of PARK2 duplication or microdeletion on neurological diseases such as Parkinson's. The Parkinson's disease 2 (PARK2) ...

Patients with clinical features suggestive of either NS, NSML, CFC, NF1, Legius syndrome or Noonan-like syndrome; patients with a clinical diagnosis of any of these syndromes that previously tested ...

This APP duplication was reported in a study of 24 French families carrying APP duplications (Grangeon et al., 2023). Duplications were detected by analyzing the APP locus on chromosome 21 using ...

Patients with classic NF1 including the presence of cutaneous neurofibromas or Lisch nodules, as no genetic heterogeneity demonstrated so far associated with this phenotype. The NF1-only by NGS ...

Scientists have proposed an addition to the theory of evolution that can explain how and why genes move on chromosomes. The hypothesis is called the SNAP Hypothesis. Scientists at Uppsala University ...

Extensive single Watson-Crick base pair mutations can occur in addition to duplication or deletion of an entire group of genes on chromosomal region 17p11.2. Potocki-Lupski syndrome is a condition ...