17
Jun
Chromosome 22
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Jean et al. “Genome Sequencing Identifies a Heterozygous Deletion of RBFOX2 in a Family With Congenital Heart Disease:A Case Report”. “Amer. J. Med. Genet.” 2025, v. 200 (3), 718-722. Install v. 200. Hypoplastic left heart syndrome (HLHS) is a congenital heart defect characterized by an underdeveloped left side of... Read More
05
May
Ring Chromosome 22
Ring Chromosome 22 Ring chromosome 22 is a rare chromosomal arrangement where the long arm and short arm of a singular chromosome 22 are joined together. This causes the entire chromosome to be in a circular, or ring, structure rather than linear. This joining process results in the deletion of... Read More
24
Jan
Diagnosing Cat-Eye syndrome via ‘visual diagnosis’
New research study ongoing directed by Dr. Thomas Liehr of the Jena Institute of Human Genetics in Jena, Germany to learn if diagnosing Cat-Eye syndrome via visual diagnosis is possible. In individuals with Cat-Eye syndrome, the short arm and a small region of the long arm of chromosome 22 (i.e.,... Read More
20
Jun
Phelan-McDermid Syndrome Patient Powered Research Network
This article discusses Phelan-McDermid Syndrome and the Patient Powered Research Network. Phelan-McDermid Syndrome (PMS) is a rare neurodevelopmental disorder, with only about 1,400 cases reported. It is caused either by a 22q13 deletion – a region within the long arm of chromosome 22 – or a mutation within the SHANK3... Read More
