1q21.1 copy number variations (CNVs) are rare aberrations of human chromosome 1. In a common situation a human cell has one pair of identical chromosomes...

situated. The syndrome is a form of the 1q21.1 copy number variations, and it is a deletion in the distal area of the 1q21.1 part. The CNV leads to a very variable...

1q21.1 duplication syndrome, also known as 1q21.1 microduplication, is an uncommon copy number variant associated with several congenital abnormalities...

is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is usually associated with developmental delays, mild...

arise from abnormalities of both copies of an autosomal gene (a recessive disorder) or of only one of the two copies (a dominant disorder). Some conditions...

evolution Comparative genomics Inparanoid Tandem exon duplication 1q21.1 copy number variations Segmental duplication on the human Y chromosome Johnson, M.E...

"Archived copy" (PDF). Archived from the original (PDF) on September 14, 2017. Retrieved September 14, 2017.{{cite web}}: CS1 maint: archived copy as title...

short-stature homeobox gene on the X and Y chromosomes. The absence of a copy of the SHOX gene in Turner's inhibits skeletal growth, resulting both in...

genes on chromosome 1 (which contains the most known genetic diseases of any human chromosome): 1q21.1 deletion syndrome 1q21.1 duplication syndrome...

Olduvai copy number variation has recently been investigated in autism, which is a disorder associated with deletions and duplications of 1q21, yet the...

deletions of the same genes do not result in BWS phenotype." Functional copies of ACTB and ACTG1 genes provide instructions for protein production of beta...

Experienced Pregnancy Loss: A Review of the Literature". Adultspan Journal. 14 (1): 2–10. doi:10.1002/j.2161-0029.2015.00032.x. Christiansen, DM (February 2017)...

clinical evaluation of HER2 gene copy number. Trisomy 21 is a form of Down syndrome that occurs when there is an extra copy of chromosome 21. The result is...

risks for prenatal diagnosis techniques". Fetal Diagnosis and Therapy. 27 (1): 1–7. doi:10.1159/000271995. PMID 20051662. Agarwal K, Alfirevic Z (August...

ventricular outflow of blood in the heart. Other examples include: Some cancers 1q21.1 deletion syndrome 5q- syndrome in myelodysplastic syndrome (MDS) 22q11.2...

average number of structural variations such as rare deletions or duplications of tiny DNA sequences within genes (known as copy number variations) are linked...

made from the Greek text. Aramaic fragments of documents relating to Levi (1Q21, 4Q213, 4Q213a, 4Q213b, 4Q214, 4Q214a, 4Q214b); Judah (3Q7, 4Q538); and Joseph...

(September 2016). "The importance of copy number variation in congenital heart disease". npj Genomic Medicine. 1: 16031. doi:10.1038/npjgenmed.2016.31...

mechanism. In such a case, the cell has double the copy number of a normal cell, and produces double the number of spindle poles as well. This results in four...

PMID 19412175. Diskin SJ, Hou C, Glessner JT, et al. (June 2009). "Copy number variation at 1q21.1 associated with neuroblastoma". Nature. 459 (7249): 987–91...

Neuroblastoma has been linked to copy-number variation within the NBPF10 gene, which results in the 1q21.1 deletion syndrome or 1q21.1 duplication syndrome. One...

median age at diagnosis is 69 years. SNP array karyotyping can detect copy number alterations of prognostic significance that may be missed by a targeted...

autism whereas duplication is associated with schizophrenia. Conversely, 1q21.1 and 22p11.2 duplication is associated with autism and deletion with schizophrenia...

Most members of the NBPF gene family are located on chromosomal location 1q21.1-1q23.3 in humans, and these genes are more similar to each other in sequence...

myofibrils) and is a large protein, at 2,324 amino acids. 1q21.1 deletion syndrome 1q21.1 duplication syndrome GRCh38: Ensembl release 89: ENSG00000178104...

for the large (SDHC) and small (SDHD) subunits to 1q21 and 11q23". Cytogenetics and Cell Genetics. 79 (1–2): 132–8. doi:10.1159/000134700. PMID 9533030....