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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 ...
Patau syndrome is a syndrome caused by a chromosomal abnormality, in which some or all of the cells of the body contain extra genetic material from chromosome 13. The extra genetic material disrupts normal development, causing multiple and complex organ defects.
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 ...
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 ...
Vanessa Hudgens took to Instagram following the birth of her first child to call out the paparazzi for disrespecting her family’s privacy. Paparazzi were stationed outside of the hospital where ...
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] Children usually have a happy personality and have a particular interest in water. [6 ...
Trisomy 18 typically results in life-threatening complications for a baby, but one little girl, Georgia, is proof of how one can live with it.
Thyroid disease (hypo- and hyperthyroidism) Malnutrition and vitamin deficiencies, such as low B12 and B1, which are common with alcohol use. Mental health conditions such as depression and ...