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A more uncommon cause for WHS is the formation of a ring chromosome. A ring chromosome can form when a chromosome breaks apart and forms a circular structure to fuse together. That process may initiate gene loss towards the ends of the chromosome. [9] Severity of symptoms and expressed phenotype differ based on the amount of genetic material ...
Ogden syndrome is a lethal X-linked recessive condition. Because the affected gene is on the X-chromosome, it affects males far more severely due to the fact that males only carry one copy of the X chromosome so the mutation is in every cell but females carry two and therefore some cells may use the non mutated copy and others use the mutated copy.
Tetrasomy X, also known as 48,XXXX, is a chromosomal disorder in which a female has four, rather than two, copies of the X chromosome.It is associated with intellectual disability of varying severity, characteristic "coarse" facial features, heart defects, and skeletal anomalies such as increased height, clinodactyly (incurved pinky fingers), and radioulnar synostosis (fusion of the long bones ...
Kagami-Ogata syndrome is a rare genetic disease that is caused by mutations on Maternal chromosome 14 or by paternal UPD(14). [1] The main signs of this disease are: polyhydramnios , narrow bell-shaped thorax , coat-hanger-like ribs , abdominal wall defect , enlarged placenta . [ 2 ]
Yeast artificial chromosomes (YACs) are genetically engineered chromosomes derived from the DNA of the yeast, Saccharomyces cerevisiae, which is then ligated into a bacterial plasmid. By inserting large fragments of DNA, from 100–1000 kb, the inserted sequences can be cloned and physically mapped using a process called chromosome walking .
Excess amounts of T3 circulate in the bloodstream. It is unclear if this is a consequence of compensatory hyperdeiodination or if it results from impaired uptake by certain cell types. Increased T3 levels in the blood may be toxic to some organs and contribute to the signs and symptoms of Allan–Herndon–Dudley syndrome. [citation needed]
Proteus syndrome is a rare genetic disorder [1] that can cause tissue overgrowth involving all three embryonic lineages. Patients with Proteus syndrome tend to have an increased risk of embryonic tumor development. [2] The clinical symptoms and radiographic findings of Proteus syndrome are highly variable, as are its orthopedic manifestations ...
CLOVES syndrome affects people with various symptoms, ranging from mild fatty soft-tissue tumors to vascular malformations encompassing the spine or internal organs. It is a genetic disorder that results from somatic, mosaic gain-of-function mutations of the PIK3CA gene, and belongs to the spectrum of PIK3CA -related overgrowth syndromes (PROS).