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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 ...
8p23.1 duplication syndrome is a rare genetic disorder caused by a duplication of a region from human chromosome 8. [1] This duplication syndrome has an estimated prevalence of 1 in 64,000 births [1] and is the reciprocal of the 8p23.1 deletion syndrome. The 8p23.1 duplication is associated with a variable phenotype including one or more of ...
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 ...
1q21.1 duplication syndrome, also known as 1q21.1 microduplication, is an uncommon copy number variant associated with several congenital abnormalities, including developmental delay , dysmorphic traits, autism spectrum disorder , and congenital cardiac defects. [1] Common facial features include frontal bossing, hypertelorism, and macrocephaly ...
49, XXXXY syndrome. 5 alpha reductase 2 deficiency. 5-alpha-Oxoprolinase deficiency, rare (NIH) 5-Nucleotidase syndrome, rare (NIH) 5p minus syndrome. 5q- syndrome. 6 alpha mercaptopurine sensitivity, rare (NIH) 6-pyruvoyl-tetrahydropterin synthase deficiency, rare (NIH) 6-pyruvoyltetrahydropterin synthase deficiency.
Chromosome 10 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. People normally have two copies of this chromosome. Chromosome 10 spans about 134 million base pairs (the building material of DNA ) and represents between 4 and 4.5 percent of the total DNA in cells .
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
The ICD coding for rare diseases is the International Classification of Diseases code used for the purpose of documenting rare diseases. It is important for health insurance reimbursement, administration, epidemiology, and research. Of the approximately 7,000 rare diseases, only about 500 have a specific code.