17
Jun
Chromosome 10
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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
17
Jun
Chromosome 20
Aljedani et al. “A rare case of de novo 20p12.3 microdeletion syndrome in a nine-year-old female: case report and literature review”. “Frontiers in Genetics” 2025, v. 16, 1669947. 20p12.3 microdeletion is a rare chromosomal deletion with limited case reports, though has been characterized individuals by Wolff-Parkinson-White syndrome (a congenital... Read More
15
May
Inverted duplication deletion chromosome 8p23.1
Yang et al. “Prenatal diagnosis and molecular cytogenetic characterization of 12 cases of chromosome 8 inverted duplication deletion syndrome”. “Orphanet Journal of Rare Diseases,” 2025, v. 20:421. Inverted duplication deletion of the short arm, p, of chromosome 8 is a rare chromosomal rearrangement that involves a deletion of the 8p23.1-pter... Read More
