a parent is unknowingly the carrier of a chromosome with a copy number variation and passes it at conception to the child, with different consequences for the child.Due to this genetic misprint, the embryo may experience problems in the development during the first months of pregnancy. Approximately 20 to 40 days after fertilization, something goes wrong in the construction of the body parts and brain, which leads to a chain reaction. Genetics
The structure of 1q21.1
The structure of 1q21.1 is complex. The area has a size of approximately 6 Megabase (Mb) (from 141.5 Mb to 147.9 Mb). Within 1q21.1 there are two areas where the CNVs can be found: the proximal area or TAR area (144.1 to 144.5) and the distal area (144.7 to 145.9). The 1q21.1 deletion syndrome will commonly be found in the distal area, but an overlap with the TAR-area is possible. 1q21.1 has multiple repetitions of the same structure (areas with the same color in the picture have equal structures) Only 25% of the structure is not duplicated. There are several gaps in the sequence. There is no further information available about the DNA-sequence in those areas up until now. The gaps represent approximately 700 Kilobase. New genes are expected in the gaps. Because the gaps are still a topic of research, it is hard to find the exact start and end markers of a deletion.
Noma—a gangrenous disease still widespread among malnourished children living on the borders of the Sahara desert—can cause ankylosis of the maxilla and mandible, impairing the ability to speak and eat. Fibrodysplasia Ossificans Progressiva is a rare bone disease in which muscle, tendons and ligaments turn to bone. This leads to progressive ankylosis of almost all joints. Society and culture
In 2014, Liliana Cernecca, a six-year-old girl at the time, was only able to open her mouth a couple millimeters after one of her jaw joints fused. She underwent surgery to correct her jaw ankylosis during which her jaw was operated on and unlocked. Fossil record
Evidence for ankylosis found in the fossil record is studied by paleopathologists, specialists in ancient disease and injury. Ankylosis has been reported in dinosaur fossils from several species, including Allosaurus fragilis, Becklespinax altispinax, Poekilopleuron bucklandii, and Tyrannosaurus rex (including the Stan specimen). References


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