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Smith–Magenis syndrome (SMS), also known as 17p- syndrome, is a microdeletion syndrome characterized by an abnormality in the short (p) arm of chromosome 17. [1] It has features including intellectual disability, facial abnormalities, difficulty sleeping, and numerous behavioral problems such as self-harm.
Individuals with PKS present prenatally or at birth with multiple birth defects.These defects include: brain atrophy, agenesis of the corpus callosum, polymicrogyria of the brain, and/or spot calcifications in the brain's lateral sulcus; deafness and/or blindness; autonomic nervous system dysfunctions such as anhidrosis, hypohidrosis, and/or episodic spells of hyperventilation interspersed ...
Chromosome 22 is one of the 23 pairs of chromosomes in human cells.Humans normally have two copies of chromosome 22 in each cell. Chromosome 22 is the second smallest human chromosome, spanning about 51 million DNA base pairs and representing between 1.5 and 2% of the total DNA in cells.
Comparative genomic hybridization (CGH) is a molecular cytogenetic method for analysing copy number variations (CNVs) relative to ploidy level in the DNA of a test sample compared to a reference sample, without the need for culturing cells.
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 ). [2]
Chromosome 6 spans more than 172 million base pairs (the building material of DNA) and represents between 5.5 and 6% of the total DNA in cells. It contains the major histocompatibility complex , which contains over 100 genes related to the immune response , and plays a vital role in organ transplantation .
Having three copies of an autosome (known as a trisomy) is far more compatible with life, however. A common example is Down syndrome, which is caused by possessing three copies of chromosome 21 instead of the usual two. [9] Partial aneuploidy can also occur as a result of unbalanced translocations during meiosis. [11]
[5] The presidency of William Henry Harrison, who died 31 days after taking office in 1841, was the shortest in American history. [6] Franklin D. Roosevelt served the longest, over twelve years, before dying early in his fourth term in 1945. He is the only U.S. president to have served more than two terms. [7]