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This duplication of only some chromosome 21 genes results from: a) Robertsonian translocations, wherein part of chromosome 21 is duplicated on another chromosome; b) partial trisomy 21, wherein only part of chromosome 21 is duplicated); c) an isochromosome, wherein chromosome 21 contains two long but no short arms); or d) duplications, wherein ...
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.
Trisomy 16 is a chromosomal abnormality in which there are 3 copies of chromosome 16 rather than two. [1] It is the most common trisomy leading to miscarriage and the second most common chromosomal cause of it, closely following X-chromosome monosomy. [2] About 6% of miscarriages have trisomy 16. [3]
Cri du chat syndrome – (French for "cry of the cat" after the persons' malformed larynx) a partial monosomy caused by a deletion of the end of the short arm of chromosome 5; 1p36 deletion syndrome – a partial monosomy caused by a deletion at the end of the short arm of chromosome 1
The trisomy 21 karyotype figure shows the chromosomal arrangement, with the prominent extra chromosome 21. Trisomy 21 is the cause of approximately 95% of observed Down syndrome, with 88% coming from nondisjunction in the maternal gamete and 8% coming from nondisjunction in the paternal gamete. [4]
Chromosome 15 is one of the 23 pairs of chromosomes in humans.People normally have two copies of this chromosome. Chromosome 15 spans about 99.7 million base pairs (the building material of DNA) and represents between 3% and 3.5% of the total DNA in cells.
The chromosome is ~193 megabases in length. In a 2012 paper, 775 protein-encoding genes were identified on this chromosome. [4] 211 (27.9%) of these coding sequences did not have any experimental evidence at the protein level, in 2012. 271 appear to be membrane proteins. 54 have been classified as cancer-associated proteins.
The International Classification of Diseases (ICD-10) categorizes the condition as emotionally unstable personality disorder, with diagnostic criteria similar to those in the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5), where the disorder's name remains unchanged from previous editions. [9]