19
May
Ring Chromosome 6
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Ring Chromosome 6 Ring chromosome 6 is a rare chromosomal arrangement where the long arm and short arm of a singular chromosome 6 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,... 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
15
May
18p11.32p11.21 deletion
Ye et al. “Autoimmune thyroid disease and pituitary adenoma in a female patient with 18p deletion syndrome: a case report and review of the literature”. “BMC Endocrine Disorders,” 2025, v. 25:199. 18 p deletion is characterized by loss of genetic information on the short arm of chromosome 18. It is... Read More
15
May
10p12.1 deletion
Manohar et al. “A familial deletion of 10p12.1 associated with thrombocytopenia”. “American Journal of Medical Genetics Part A” 2024, v.194A:77–81. Thrombocytopenia is when a person has a low platelet count, reducing their blood’s ability to clot, which causes risks of excessive bleeding and bruising. Thrombocytopenia can be acquired from a... Read More
15
May
1.4 Mb deletion 17q12 microdeletion
Fontana et al. “MODY5 and 17q12 Microdeletion Syndrome: Phenotype Variability, Prenatal and Postnatal Counseling”. “Genes” 2025, v. 16, 1002. Maturity-Onset Diabetes of the Young (MODY) is a rare, single-gene cause of diabetes, which is characterized by early age of onset hyperglycemia, typically before age 25. A subtype of MODY, MODY... Read More
