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 ...

A mutation is a change in the sequence of an organism's DNA. What causes a mutation? Mutations can be caused by high-energy sources such as radiation or by chemicals in the environment. They can also ...

The hereditary motor and sensory neuropathies (HMSNs) are a clinically heterogeneous group of peripheral neuropathies, characterized by slowly progressive weakness and atrophy of the distal limb ...

Esotropia and exotropia could have shared genetic risk factors based on findings that genetif duplications on chromosomes were risk factors for the diseases. Genetic duplications in the second, fourth ...

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) ...

Patients with multiple CALMs w/wo skinfold freckling and no other typical NF1 associated features (Lisch nodules, bone abnormalities, neurofibromas, optic pathway gliomas). The DNA-based ...

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 ...

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 ...

Bottom Line: A new mutation was identified in 9 percent of relapsed cases of pediatric acute myeloid leukemia (AML) that may define a new subtype of the disease. While the researchers identified the ...

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 ...

Patients with multiple CALMs w/wo skinfold freckling and no other typical NF1 associated features (Lisch nodules, bone abnormalities, neurofibromas, optic pathway gliomas). The DNA-based ...