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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 virtually any other chromosome and, depending on the ...
Hypoplastic left heart syndrome ( HLHS) is a rare congenital heart defect in which the left side of the heart is severely underdeveloped and incapable of supporting the systemic circulation. [2] It is estimated to account for 2-3% of all congenital heart disease. [3] Early signs and symptoms include poor feeding, cyanosis, and diminished pulse in the extremities. [4] The etiology is believed ...
After decades of false starts, researchers say they are finally making progress on a long-acting and reversible birth control option for men.
Prader–Willi syndrome ( PWS) is a rare genetic disorder caused by a loss of function of specific genes on chromosome 15. [2] In newborns, symptoms include weak muscles, poor feeding, and slow development. [2] Beginning in childhood, those affected become constantly hungry, which often leads to obesity and type 2 diabetes. [2] Mild to moderate intellectual impairment and behavioral problems ...
Cri du chat syndrome is a rare genetic disorder due to a partial chromosome deletion on chromosome 5. [1] Its name is a French term ("cat-cry" or "call of the cat") referring to the characteristic cat-like cry of affected children (sound sample [1] ). [2] It was first described by Jérôme Lejeune in 1963. [3] The condition affects an estimated 1 in 50,000 live births across all ethnicities ...
Transient myeloproliferative disease involves the excessive proliferation of non-malignant megakaryoblasts. Megakaryoblasts are hematological precursor cells which mature to megakaryocytes. Megakaryocytes release platelets into the bloodstream. Platelets are critical for normal blood clotting. [3] In consequence of this mutation, megkaryoblasts fail to mature properly, accumulate in multiple ...
Male contraceptives, also known as male birth control, are methods of preventing pregnancy by interrupting the function of sperm. [1] The main forms of male contraception available today are condoms, vasectomy, and withdrawal, which together represented 20% of global contraceptive use in 2019.