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Distal trisomy 10 is a rare chromosomal disorder that causes several physical defects and intellectual disability. 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.
Distal 10q deletion syndrome Dolichocephaly Microcephaly Distal monosomy 7p Distal trisomy 1p36 Metopic Microcephaly Distal trisomy 5q Microcephaly Distal symphalangism
Distal 18q-is a genetic condition caused by a deletion of genetic material within one of the two copies of chromosome 18. The deletion involves the distal section of 18q and typically extends to the tip of the long arm of chromosome 18.
Chromosome 5q deletion syndrome is an acquired, hematological disorder characterized by loss of part of the long arm ( q arm, band 5q33.1) of human chromosome 5 in bone marrow myelocyte cells. This chromosome abnormality is most commonly associated with the myelodysplastic syndrome .
The most frequent reported symptoms in patients with 22q11.2 duplication syndrome are intellectual disability /learning disability (97% of patients), delayed psychomotor development (67% of patients), growth retardation (63% of patients) and muscular hypotonia (43% of patients). [1] However, these are common and relatively non-specific ...
Miller–Dieker syndrome, Miller–Dieker lissencephaly syndrome (MDLS), and chromosome 17p13.3 deletion syndrome [1] is a micro deletion syndrome characterized by congenital malformations. Congenital malformations are physical defects detectable in an infant at birth which can involve many different parts of the body including the brain ...
Common variations in the BCL9 gene, which is in the distal area, confer risk of schizophrenia and may also be associated with bipolar disorder and major depressive disorder. [4] Research is done on 10-12 genes on 1q21.1 that produce DUF1220 -locations.
Genetics. Wolf–Hirschhorn syndrome is a microdeletion syndrome caused by a deletion within HSA band 4p16.3 of the short arm of chromosome 4, particularly in the region of WHSCR1 and WHSCR2. [7] The phenotypic characteristics of WHS are thought to be caused by the haploinsufficiency of the genes Wolf-Hirschhorn syndrome candidate 1 (WHSC1 ...
3q29 microdeletion syndrome. 3q29 microdeletion syndrome. Other names. 3qter deletion, Monosomy 3q29. Chromosome 3 is associated with this condition. 3q29 microdeletion syndrome is a rare genetic disorder resulting from the deletion of a segment of chromosome 3. This syndrome was first described in 2005.
Chinese Restaurant Syndrome. Chromosomal deletion syndrome. Chromosome 5q deletion syndrome. Chronic fatigue syndrome. Chronic functional abdominal pain. Chronic infantile neurologic cutaneous and articular syndrome. Chronic Lyme disease. Chronic prostatitis/chronic pelvic pain syndrome. Churg–Strauss syndrome.
