11
Aug
Chromosome 9q34 Deletion
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Yang et al. “Genotype–phenotype correlations in 9q34.3 microdeletion syndrome: a study of 35 Mainland Chinese patients”. “Orphanet Journal of Rare Diseases,” 2026, v. 21:22. Kleefstra syndrome is characterized by intellectual disability (ID), autism spectrum disorder, childhood hypotonia, and distinctive facial features. The majority of individuals function in the moderate-to-severe spectrum... Read More
11
Aug
8q22.2 Deletion
Deng et al. “Heterozygous loss of OSR2 can cause radioulnar synostosis with ancillary skeletal manifestations”. “Genetics in Medicine” 2026, v. 28(3), 101664. Congenital radioulnar synostosis (RUS) is defined by bony fusion of the proximal radius and ulna bones. Genetic causes have previously been identified such as pathogenic variants in SMAD6... Read More
11
Aug
Duplication of 19p13.11
Dutta et al. “Clinical manifestations of chromosome 19p13.11 duplication”. “Journal of Medical Genetics” 2026, v. 63 (4), 235-243 Copy number variants (CNVs) of chromosome 19 reported in the medical literature typically describe deletions, with there being few reports of chromosome 19 duplications. Previous research has described 1) individuals with 19p13.13... Read More
11
Aug
Chromosome 3q27 Deletion
Correa Brito et al. “46,XY DSD with Partial Gonadal Dysgenesis and Growth Failure in a Patient with 3q27.1 Microdeletion: Candidate Gene Curation After Exhaustive Literature Review”. “International Journal of Molecular Sciences” 2025, v. 27, 821 Disorders of sex development (DSDs) refer to a group of congenital conditions in which there... Read More
11
Aug
Trisomy 14
Trisomy 14 Individuals with trisomy 14 have three copies of chromosome 14 rather than the typical two. Complete (non-mosaic) trisomy 14 is typically the result of nondisjuction during meiosis or a post-zygotic error in cell division1. Complete trisomy 14 is lethal in early embryos. Only infants who are mosaic (not... Read More
