18
Jun
Ring Chromosome 9
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Ring Chromosome 9 Ring chromosome 9 is a chromosomal arrangement where the long arm and short arm of a singular chromosome 9 are joined together. This causes the entire chromosome to be in a circular, or ring, structure rather than linear. This joining process often results in the deletion, and... Read More
18
Jun
Ring Chromosome 4
Ring Chromosome 4 Ring chromosome 4 is a chromosomal arrangement where the long arm and short arm of a singular chromosome 4 are joined together. This causes the entire chromosome to be in a circular, or ring, structure rather than linear. This joining process often results in the deletion, and... Read More
17
Jun
Chromosome 10
Meiss et al. “GATA3 Deletion Associated With Juvenile Idiopathic Arthritis: Expanding the Phenotypic Spectrum of Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome”. “American Journal of Medical Genetics Part A” 2025, v. 200 (3), 733-737. Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome, also known as Barakat syndrome, is a... Read More
17
Jun
Chromosome 22
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
17
Jun
Otofaciocervical Syndrome
Graziani et al. “Otofaciocervical Syndrome and Its Overlap with Branchiootorenal Spectrum: An Integrated Literature Analysis of EYA1-Related Disorders, Including a Novel Case with an 8q13.2q13.3 Deletion”. “Genes” 2025, v. 16, 1267 Craniofacial syndrome associated with branchial arch anomalies, or congenital neck defects, represent a diverse group of disorders that... Read More
