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[citation needed] An example of trisomy in humans is Down syndrome, which is a developmental disorder caused by an extra copy of chromosome 21; the disorder is therefore also called trisomy 21. [7] An example of monosomy in humans is Turner syndrome, where the individual is born with only one sex chromosome, an X. [8]
The mechanism is due to maternal meiotic non-disjunction followed by mitotic loss of the paternal chromosome 15 after fertilization. The third cause for PWS is the disruption of the imprinting process on the paternally inherited chromosome 15 (epigenetic phenomena). This disruption is present in approximately 2–5% of affected individuals.
Emanuel syndrome is an inherited chromosome abnormality. It is caused by the presence of extra genetic material from chromosome 11 and chromosome 22 in each cell. In addition to the usual 46 chromosomes, people with Emanuel syndrome have an extra (supernumerary) chromosome consisting of a piece of chromosome 11 attached to a piece of chromosome 22.
The extra chromosome 21 material that causes Down syndrome may be due to a Robertsonian translocation. The long arm of chromosome 21 is attached to the long arm of another chromosome, often chromosome 14 [46,XX,t(14;21)] or itself [called an isochromosome, 45,XX,t(21;21)(q10;q10)] as seen in the translocation karyotype figure.
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. There are over 6,000 known genetic disorders in humans.
Turner syndrome (TS), commonly known as 45,X, or 45,XO, [note 1] is a chromosomal disorder in which cells have only one X chromosome or are partially missing an X chromosome (sex chromosome monosomy) leading to the complete or partial deletion of the pseudoautosomal regions (PAR1, PAR2) in the affected X chromosome.
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Erroneous SON function causes insufficient production of downstream targets, genome instability and disrupted cell cycle progression which are fundamental to the developmental defects and organ abnormalities in individuals with ZTTK syndrome. For example, FLNA haploinsufficiency observed in individuals with ZTTK syndrome is the main cause of a ...