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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 ...
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 virtually any other chromosome and, depending on the ...
Cat-eye syndrome (CES) or Schmid–Fraccaro syndrome is a rare condition caused by an abnormal extra chromosome, i.e. a small supernumerary marker chromosome. [2] This chromosome consists of the entire short arm and a small section of the long arm of chromosome 22. In consequence, individuals with the cat-eye syndrome have three ( trisomic) or four ( tetrasomic) copies of the genetic material ...
A chromosomal abnormality, chromosomal anomaly, chromosomal aberration, chromosomal mutation, or chromosomal disorder is a missing, extra, or irregular portion of chromosomal DNA. [1] [2] These can occur in the form of numerical abnormalities, where there is an atypical number of chromosomes, or as structural abnormalities, where one or more individual chromosomes are altered. Chromosome ...
Marker chromosome. A marker chromosome (mar) is a small fragment of a chromosome which generally cannot be identified without specialized genomic analysis due to the size of the fragment. [1] The significance of a marker is variable as it depends on what material is contained within the marker. [2] The large majority of these marker chromosomes ...
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 [1] ). [2] It was first described by Jérôme Lejeune in 1963. [3] The condition affects an estimated 1 in 50,000 live births across all ethnicities ...
Jacobsen syndrome is a rare chromosomal disorder resulting from deletion of genes from chromosome 11 that includes band 11q24.1. It is a congenital disorder. Since the deletion takes place on the q arm of chromosome 11, it is also called 11q terminal deletion disorder. [1] The deletion may range from 5 million to 16 million deleted DNA base pairs. [2] The severity of symptoms depends on the ...
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]