What is chromosome Xp22?
Abstract. The Xp22. 31 segment of the short arm of the human X chromosome is a region of high instability with frequent rearrangement. The duplication of this region has been found in healthy people as well as in individuals with varying degrees of neurological impairment.
What is duplication abnormality?
7q11. 23 duplication syndrome is a condition that can cause a variety of neurological and behavioral problems as well as other abnormalities. People with 7q11. 23 duplication syndrome typically have delayed development of speech and motor skills such as crawling and walking.
What do you understand by chromosomes?
(KROH-muh-some) A structure found inside the nucleus of a cell. A chromosome is made up of proteins and DNA organized into genes. Each cell normally contains 23 pairs of chromosomes.
What happens in duplication?
Duplication Duplication, as related to genomics, refers to a type of mutation in which one or more copies of a DNA segment (which can be as small as a few bases or as large as a major chromosomal region) is produced. Duplications occur in all organisms.
What is the size of the Xp22 gene duplication?
The size of the Xp22.31 duplications ranged from 294 kb to 1.6 Mb. We show a comparison of the breakpoints, inheritance and clinical phenotype, and a review of the literature.
Are there any previously unreported Xp22 duplications of talipes?
Here we present a series of nine previously unreported individuals with Xp22.31 duplications, found through microarray analysis in the course of genetic workup for developmental delay, associated with a combination of talipes anomalies, seizures and/or feeding difficulties. The size of the Xp22.31 duplications ranged from 294 kb to 1.6 Mb.
What is genomic instability in Xp22?
Genomic instability is a feature of the human Xp22.31 region wherein deletions are associated with X-linked ichthyosis, mental retardation and attention deficit hyperactivity disorder. A putative homologous recombination hotspot motif is enriched in low copy repeats that mediate recurrent deletion at this locus.