They are a result of chromosomal rearrangement – deletion, duplication, novel sequence insertion or inversion. If these polymorphisms are cytogenetically visible they are termed heteromorphisms.

All array platforms will detect copy number variations including deletions, duplications, unbalanced translocations, some marker chromosomes and aneuploidy. SNP arrays have the added advantage of ...

In W.J. v. Secretary of Health and Human Services, parents wanted to sue after their child suffered a vaccine injury.

The mental health crisis in young people of the LGBTQ+ community aged 15-24 in the Philippines continues to worsen, as ...

However, only chromosomes 7 and 17 have been consistently implicated ... Recently, two SRS patients with a maternal duplication of 7p11.2-p13, and a single proband with segmental mUPD for the region ...

Female humans, along with other mammals, have two X chromosomes, while males have just one ... It was on chromosome three of the spiny rat. A small duplication—just seventeen thousand base chromosome ...

38; 8036 Graz, Austria; [email protected] Background Subtelomeric deletions and duplications may cause syndromic disorders ... (ferritin and transferrin normal), and because his chromosomal ...

Bakhoum is a leading expert on chromosomal instability and its role in cancer progression. He co-founded Volastra in 2019 and has been advising the company while maintaining an active research ...

What Do Your Blood Cells Do?Leukemia develops in the blood cells produced by your bone marrow. These include: Red blood cells (RBCs), which deliver oxygen throughout the bodyWhite blood cells (WBCs), ...

This important study explores the interplay between gene dosage and gene mutations in the evolution of antibiotic resistance. The authors provide solid evidence to connect proteostasis with gene ...

A research team has successfully sequenced and assembled the genomes of all four Macadamia species, marking a significant advance in crop improvement efforts for this commercially valuable nut.