Researchers have long recognized this possibility, but a paper published today (July 31) in The American Journal of Human Genetics attempts to better quantify the phenomenon of mosaicism. The authors ...

While Emma has Down syndrome — specifically a rare type called Mosaic Down syndrome — some people don’t believe it. “At the ...

Mosaic Down syndrome is a variant of Down syndrome. Down syndrome is a congenital (present at birth) genetic condition that occurs when a person has three copies of chromosome 21 instead of two ...

2 The figure of two thirds could imply that Gilgamesh was either a genetic chimera or mosaic. Although the ancients Mesopotamians were aware of the concept of chimeras and regularly used them in ...

Mosaicism is also a possibility in individuals with clinical features of NF1 who receive a negative genetic test result. In these cases, the NF1 pathogenic variant affects some cells in the body but ...

Scientists have long speculated that mosaicism – a biological phenomenon in which cells within the same person have a different genetic makeup – plays a bigger role in the transmission of rare disease ...

The main focus of our research is unraveling genetics of lethal lung developmental disorders ... observed in these rare lethal developmental disorders of the lung. Somatic Mosaicism for SNVs and CNVs ...

MZ twins are generally assumed to be genetically identical, although some genetic and epigenetic differences ... To ascertain the frequency of somatic mosaicism for CNVs, Bruder et al.

An Enniskillen mother fears that her son – who suffers from a rare genetic condition – will be one of thousands to lose out amid ...

Kiely N. James, PhD, FACMG is the recipient of the 2025 Richard King Trainee Award for Best Publication by a Trainee in Genetics in Medicine.