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Distal trisomy 10 is a rare chromosomal disorder that causes several physical defects and intellectual disability. [5] Humans, like all sexually reproducing species, have somatic cells that are in diploid [ 2N] state, meaning that N represent the number of chromosomes, and 2 the number of their copies. In humans, there are 23 chromosomes, but ...
The Pallister–Killian syndrome (PKS), also termed tetrasomy 12p mosaicism or the Pallister mosaic aneuploidy syndrome, is an extremely rare and severe genetic disorder. PKS is due to the presence of an extra and abnormal chromosome termed a small supernumerary marker chromosome (sSMC). sSMCs contain copies of genetic material from parts of ...
Subclavian steal syndrome (SSS), also called subclavian steal steno-occlusive disease, is a medical condition characterized by retrograde (reversed) blood flow in the vertebral artery or the internal thoracic artery. This reversal occurs due to proximal stenosis (narrowing) or occlusion of the subclavian artery.
Fragile X syndrome. Fragile X syndrome ( FXS) is a genetic disorder characterized by mild-to-moderate intellectual disability. [ 1] The average IQ in males with FXS is under 55, while about two thirds of affected females are intellectually disabled. [ 3][ 4] Physical features may include a long and narrow face, large ears, flexible fingers, and ...
A small supernumerary marker chromosome ( sSMC) is an abnormal extra chromosome. It contains copies of parts of one or more normal chromosomes and like normal chromosomes is located in the cell's nucleus, is replicated and distributed into each daughter cell during cell division, and typically has genes which may be expressed.
The results were published this week in the New England Journal of Medicine. The study looked at 353 patients who, from the outside, seemed to have lost consciousness due to a brain injury. The ...
Angelman syndrome ( AS) is a genetic disorder that mainly affects the nervous system. [ 6] Symptoms include a small head and a specific facial appearance, severe intellectual disability, developmental disability, limited to no functional speech, balance and movement problems, seizures, and sleep problems. [ 6]
July 24, 2024 at 4:12 AM. (Reuters) -Pfizer's gene therapy for hemophilia A significantly cut the number of annual bleeding episodes in patients with the rare disorder in a late-stage study and ...