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G-banding patterns of human chromosome 13 in three different resolutions (400, [12] 550 [13] and 850 [3]). Band length in this diagram is based on the ideograms from ISCN (2013). [ 14 ] This type of ideogram represents actual relative band length observed under a microscope at the different moments during the mitotic process .
13q deletion syndrome is a rare genetic disease caused by the deletion of some or all of the large arm of human chromosome 13. Depending upon the size and location of the deletion on chromosome 13, the physical and mental manifestations will vary. It has the potential to cause intellectual disability and congenital malformations that affect a ...
This can occur either because each cell contains a full extra copy of chromosome 13 (a disorder known as trisomy 13 or trisomy D or T13 [1]), or because each cell contains an extra partial copy of the chromosome, or because there are two different lines of cells—one healthy with the correct number of chromosomes 13 and one that contains an ...
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.
Robertsonian translocations can only occur between chromosomes which have the centromere very close to one end. This means these chromosomes have a long arm which is particularly long, and a short arm which is particularly short. These are known as acrocentric chromosomes. Humans have five of these acrocentric chromosomes: 13, 14, 15, 21 and 22.
The chromosomal basis of Wolf-Hirschhorn syndrome (WHS) consists of a deletion of the most terminal portion of the short arm of chromosome 4. The deleted segment of reported individuals represent about one half of the p arm, occurring distal to the bands 4p15.1-p15.2. The proximal boundary of the WHSCR was defined by a 1.9 megabase terminal ...
[1] [2] [4] In some of those affected, the syndrome causes curly hair. [2] [4] The facial appearance has been noted to resemble that of Kabuki syndrome. [1] [2] The syndrome typically results in intellectual disability, including motor and language delays. [2] [3] [4] Some individuals have had agenesis of the corpus callosum or aplasia of the ...
Young–Madders syndrome, alternatively known as Pseudotrisomy 13 syndrome or holoprosencephaly–polydactyly syndrome, is a genetic disorder resulting from defective and duplicated chromosomes which result in holoprosencephaly, polydactyly, facial malformations and intellectual disability, with a significant variance in the severity of symptoms being seen across known cases. [1]