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#chromosome (74), the (70), protein (50), and (46), encoding (40), human (39), syndrome (29), gene (26), genes (21), genome (17), 2017 (17), 000 (17), deletion (15), 001 (15), for (14), retrieved (13), edit (13), may (12), pmid (12), doi (12), this (11), from (11), list (11), 22q11 (11), properties (11), 22q13 (10), region (10), ncbi (10), genetype (10), with (9), chromosomes (9), number (9), homo (9), coding (9), search (8), page (8), q13 (8), enzyme (8), wikipedia (7), dna (7), chromosomal (7), has (7), banding (7), gneg (7), are (7), band (7), ccds (7), q11 (7), domain (7), rna (7), nomenclature (6), pmc (6), gpos (6), iscn (6), length (6), cytogenetic (6), ideogram (6), 400 (6), sapiens (6), 100 (6), eye (6), cell (6), about (5), non (5), international (5), see (5), centromere (5), extra (5), genetic (5), philadelphia (5), 2013 (5), bphs (5), chr (5), type (5), cancer (5), called (5), been (5), small (5), other (5), changes (5), each (5), one (5), homolog (5), containing (5), 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84407, 818, 468, 3400, density, stain, patterns, three, actual, relative, observed, microscope, moments, during, mitotic, process, proportional, used, browsers, browser, known, der, when, individual, composed, pieces, 11th, 22nd, rearrangement, associated, several, commonly, only, slowly, form, cml, more, rapidly, cancers, acute, presence, predict, how, will, progress, provides, target, therapies, rare, disorder, often, change, inverted, made, abnormally, copied, causes, gap, split, colored, skin, tags, pits, front, ear, kidney, ocular, iris, coloboma, variety, effects, intellectual, disability, physical, include, piece, segment, monosomy, ring, breakage, reattachment, both, ends, trisomy, people, copy, near, middle, location, designated, contains, but, well, characterized, percentage, affected, individuals, shorter, deletions, same, particular, thought, responsible, such, opening, roof, mouth, distinctive, facial, low, calcium, levels, does, appear, cause, learning, disabilities, 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orm epsilon or ck1ε dgcr5 encoding a long non coding rna dgcr6 digeorge syndrome critical region gene 6 ep300 ep300 as1 ewsr1 tafa5 family with sequence similarity 19 member a5 fam227a encoding protein fam227a fbln1 gtpbp1 gtp binding protein 1 hmgxb4 encoding protein hmg box containing 4 ift27 encoding protein intraflagellar transport 27 igl iglj3 encoding protein immunoglobulin lambda joining 3 igll5 encoding protein immunoglobulin lambda like polypeptide 5 kiaa0930 encoding uncharacterized protein kiaa0930 linc00899 encoding protein long intergenic non protein coding rna 899 mapk1 mapk12 mcat encoding enzyme malonyl coa acyl carrier protein transacylase mitochondrial mcm5 mif mirlet7bhg encoding protein mirlet7b host gene non protein coding mkl1 mmp11 mn1 mtp18 myh9 nf2 nol12 encoding protein nucleolar protein 12 parvb pdgfb pi4ka encoding enzyme phosphatidylinositol 4 kinase alpha pi4kap2 pseudogene phosphatidylinositol 4 kinase alpha pseudogene 2 pisd encoding enzyme phosphatidylserine decarboxylase proenzyme pnpla3 encoding enzyme patatin like phospholipase domain containing protein 3 prame encoding protein melanoma antigen preferentially expressed in tumors rac2 rbx1 rnr5 encoding rna ribosomal 45s cluster 5 rnu12 encoding protein rna u12 small nuclear rrp7a encoding protein ribosomal rna processing protein 7 homolog a rtcb encoding protein rna 2 3 cyclic phosphate and 5 oh ligase rtl6 encoding protein retrotransposon gag like 6 samm50 encoding protein sorting and assembly machinery component 50 homolog sept3 encoding protein neuronal specific septin 3 sept5 shfm3p1 sox10 syngr1 encoding protein synaptogyrin 1 tbc1d10a encoding protein tbc1 domain family member 10a tef encoding protein thyrotroph embryonic factor thap7 encoding protein thap domain containing protein 7 thoc5 encoding protein tho complex subunit 5 homolog trmu encoding enzyme mitochondrial trna specific 2 thiouridylase 1 ttc28 encoding protein tetratricopeptide repeat domain 28 ttll1 encoding enzyme probable tubulin polyglutamylase ttll1 xrcc6 encoding protein ku70 locus gene description condition 22 q11 1 q11 2 igl asymmetric crying facies cayler cardiofacial syndrome 22 q11 21 tbx1 t box 1 22 q11 rtn4r reticulon 4 receptor schizophrenia 22 q11 21 q11 23 comt catechol o methyltransferase gene 22 q12 1 q13 1 nefh neurofilament heavy polypeptide 200kda 22 q12 1 12 chek2 chk2 checkpoint homolog s pombe 22 q12 2 nf2 neurofibromin 2 bilateral acoustic neuroma 22 q13 sox10 sry sex determining region y box 10 22 q13 1 apol1 apolipoprotein l1 22 q13 2 ep300 e1a binding protein p300 22 q13 3 wnt7b wingless type mmtv integration site family member 7b 22q13 deletion syndrome 22 q13 3 shank3 sh3 and multiple ankyrin repeat domains 3 22q13 deletion syndrome 22 q13 3 sult4a1 sulfotransferase family 4a member 1 22q13 deletion syndrome 22 q13 3 parvb parvin beta cytoskeleton organization and cell adhesion 22q13 deletion syndrome diseases and disorders edit the following diseases are some of those related to genes on chromosome 22 amyotrophic lateral sclerosis breast cancer cat eye syndrome chronic myeloid leukemia digeorge syndrome desmoplastic small round cell tumor 22q11 2 distal deletion syndrome 22q13 deletion syndrome or phelan mcdermid syndrome emanuel syndrome ewing sarcoma focal segmental glomerulosclerosis li fraumeni syndrome tango2 deficiency metachromatic leukodystrophy methemoglobinemia neurofibromatosis type 2 opitz g bbb syndrome renal medullary carcinoma rubinstein taybi syndrome waardenburg syndrome schizophrenia 13 chromosomal conditions edit the following conditions are caused by changes in the structure or number of copies of chromosome 22 22q11 2 deletion syndrome most people with 22q11 2 deletion syndrome are missing about 3 million base pairs on one copy of chromosome 22 in each cell the deletion occurs near the middle of the chromosome at a location designated as q11 2 this region contains about 30 genes but many of these genes have not been well characterized a small percentage of affected individuals have shorter deletions in the same region the loss of one particular gene tbx1 is thought to be responsible for many of the characteristic features of 22q11 2 deletion syndrome such as heart defects an opening in the roof of the mouth a cleft palate distinctive facial features and low calcium levels a loss of this gene does not appear to cause learning disabilities however other genes in the deleted region are also likely to contribute to the signs and symptoms of 22q11 2 deletion syndrome 22q11 2 distal deletion syndrome 22q13 deletion syndrome other chromosomal conditions other changes in the number or structure of chromosome 22 can have a variety of effects including intellectual disability delayed development physical abnormalities and other medical problems these changes include an extra piece of chromosome 22 in each cell partial trisomy a missing segment of the chromosome in each cell partial monosomy and a circular structure called ring chromosome 22 that is caused by the breakage and reattachment of both ends of the chromosome cat eye syndrome is a rare disorder most often caused by a chromosomal change called an inverted duplicated 22 a small extra chromosome is made up of genetic material from chromosome 22 that has been abnormally duplicated copied the extra genetic material causes the characteristic signs and symptoms of cat eye syndrome including an eye abnormality called ocular iris coloboma a gap or split in the colored part of the eye small skin tags or pits in front of the ear heart defects kidney problems and in some cases delayed development a rearrangement translocation of genetic material between chromosomes 9 and 22 is associated with several types of blood cancer leukemia this chromosomal abnormality which is commonly called the philadelphia chromosome is found only in cancer cells the philadelphia chromosome has been identified in most cases of a slowly progressing form of blood cancer called chronic myeloid leukemia or cml it also has been found in some cases of more rapidly progressing blood cancers acute leukemias the presence of the philadelphia chromosome can help predict how the cancer will progress and provides a target for molecular therapies emanuel syndrome is a translocation of chromosomes 11 and 22 originally known as supernumerary der 22 syndrome it occurs when an individual has an extra chromosome composed of pieces of the 11th and 22nd chromosomes cytogenetic band edit g banding ideograms of human chromosome 22 g banding ideogram of human chromosome 22 in resolution 850 bphs band length in this diagram is proportional to base pair length this type of ideogram is generally used in genome browsers e g ensembl ucsc genome browser g banding patterns of human chromosome 22 in three different resolutions 400 14 550 15 and 850 3 band length in this diagram is based on the ideograms from iscn 2013 16 this type of ideogram represents actual relative band length observed under a microscope at the different moments during the mitotic process 17 g bands of human chromosome 22 in resolution 850 bphs 3 chr arm 18 band 19 iscn start 20 iscn stop 20 basepair start basepair stop stain 21 density 22 p 13 0 260 1 4 300 000 gvar 22 p 12 260 576 4 300 001 9 400 000 stalk 22 p 11 2 576 836 9 400 001 13 700 000 gvar 22 p 11 1 836 1015 13 700 001 15 000 000 acen 22 q 11 1 1015 1234 15 000 001 17 400 000 acen 22 q 11 21 1234 1563 17 400 001 21 700 000 gneg 22 q 11 22 1563 1700 21 700 001 23 100 000 gpos 25 22 q 11 23 1700 1878 23 100 001 25 500 000 gneg 22 q 12 1 1878 2029 25 500 001 29 200 000 gpos 50 22 q 12 2 2029 2194 29 200 001 31 800 000 gneg 22 q 12 3 2194 2413 31 800 001 37 200 000 gpos 50 22 q 13 1 2413 2687 37 200 001 40 600 000 gneg 22 q 13 2 2687 2852 40 600 001 43 800 000 gpos 50 22 q 13 31 2852 3181 43 800 001 48 100 000 gneg 22 q 13 32 3181 3290 48 100 001 49 100 000 gpos 50 22 q 13 33 3290 3400 49 100 001 50 818 468 gneg references edit 1 2 search results 22 chr and homo sapiens organism and has ccds properties and alive prop gene ncbi ccds release 20 for homo sapiens 8 september 2016 retrieved 28 may 2017 tom strachan andrew read 2 april 2010 human molecular genetics garland science p 45 isbn 978 1 136 84407 2 1 2 3 genome decoration page ncbi ideogram data for homo sapience 850 bphs assembly grch38 p3 last update 2014 06 03 retrieved 2017 04 26 mayor susan 1999 first human chromosome is sequenced bmj 319 7223 bmj group 1453 doi 10 1136 bmj 319 7223 1453a pmc 1117192 pmid 10582915 pertea m salzberg sl 2010 between a chicken and a grape estimating the number of human genes genome biol 11 5 206 doi 10 1186 gb 2010 11 5 206 pmc 2898077 pmid 20441615 statistics downloads for chromosome 22 hugo gene nomenclature committee 8 july 2019 archived from the original on 18 august 2017 retrieved 7 august 2019 chromosome 22 chromosome summary homo sapiens ensembl release 88 29 march 2017 retrieved 19 may 2017 human chromosome 22 entries gene names and cross references to mim uniprot 28 february 2018 retrieved 16 march 2018 search results 22 chr and homo sapiens organism and genetype protein coding properties and alive prop gene ncbi 19 may 2017 retrieved 20 may 2017 search results 22 chr and homo sapiens organism and genetype miscrna properties or genetype ncrna properties or genetype rrna properties or genetype trna properties or genetype scrna properties or genetype snrna properties or genetype snorna properties not genetype protein coding properties and alive prop gene ncbi 19 may 2017 retrieved 20 may 2017 search results 22 chr and homo sapiens organism and genetype pseudo properties and alive prop gene ncbi 19 may 2017 retrieved 20 may 2017 beck megan peterson jess f mcconnell juliann mcguire marianne asato miya losee joseph e surti urvashi madan khetarpal suneeta rajkovic aleksandar yatsenko svetlana a may 2015 craniofacial abnormalities and developmental delay in two families with overlapping 22q12 1 microdeletions involving the gene american journal of medical genetics part a 167 5 1047 1053 doi 10 1002 ajmg a 36839 pmid 25810350 s2cid 205319722 liu h abecasis gr heath sc knowles a demars s chen yj roos jl rapoport jl gogos ja karayiorgou m december 2002 genetic variation in the 22q11 locus and susceptibility to schizophrenia proc natl acad sci u s a 99 26 16859 64 bibcode 2002pnas 9916859l doi 10 1073 pnas 232186099 pmc 139234 pmid 12477929 genome decoration page ncbi ideogram data for homo sapience 400 bphs assembly grch38 p3 last update 2014 03 04 retrieved 2017 04 26 genome decoration page ncbi ideogram data for homo sapience 550 bphs assembly grch38 p3 last update 2015 08 11 retrieved 2017 04 26 international standing committee on human cytogenetic nomenclature 2013 iscn 2013 an international system for human cytogenetic nomenclature 2013 karger medical and scientific publishers isbn 978 3 318 02253 7 sethakulvichai w manitpornsut s wiboonrat m lilakiatsakun w assawamakin a tongsima s 2012 estimation of band level resolutions of human chromosome images 2012 ninth international conference on computer science and software engineering jcsse pp 276 282 doi 10 1109 jcsse 2012 6261965 isbn 978 1 4673 1921 8 s2cid 16666470 p short arm q long arm for cytogenetic banding nomenclature see article locus 1 2 these values iscn start stop are based on the length of bands ideograms from the iscn book an international system for human cytogenetic nomenclature 2013 arbitrary unit gpos region which is positively stained by g banding generally at rich and gene poor gneg region which is negatively stained by g banding generally cg rich and gene rich acen centromere var variable region stalk stalk further reading edit dunham i shimizu n roe ba chissoe s hunt ar collins je bruskiewich r beare dm clamp m smink lj ainscough r almeida jp babbage a bagguley c bailey j barlow k bates kn beasley o bird cp blakey s bridgeman am buck d burgess j burrill wd o brien kp 1999 the dna sequence of human chromosome 22 nature 402 6761 489 95 bibcode 1999natur 402 489d doi 10 1038 990031 pmid 10591208 gilbert f 1998 disease genes and chromosomes disease maps of the human genome chromosome 22 genet test 2 1 89 97 doi 10 1089 gte 1998 2 89 pmid 10464604 kurzrock r kantarjian hm druker bj talpaz m 2003 philadelphia chromosome positive leukemias from basic mechanisms to molecular therapeutics ann intern med 138 10 819 30 doi 10 7326 0003 4819 138 10 200305200 00010 pmid 12755554 s2cid 25865321 maynard tm haskell gt lieberman ja lamantia as 2002 22q11 ds genomic mechanisms and gene function in digeorge velocardiofacial syndrome int j dev neurosci 20 3 5 407 19 doi 10 1016 s0736 5748 02 00050 3 pmid 12175881 s2cid 22941004 mcdermid he morrow be 2002 genomic disorders on 22q11 am j hum genet 70 5 1077 88 doi 10 1086 340363 pmc 447586 pmid 11925570 mcdonald mcginn dm kirschner r goldmuntz e sullivan k eicher p gerdes m moss e solot c wang p jacobs i handler s knightly c heher k wilson m ming je grace k driscoll d pasquariello p randall p larossa d emanuel bs zackai eh 1999 the philadelphia story the 22q11 2 deletion report on 250 patients genet couns 10 1 11 24 pmid 10191425 rinn jl euskirchen g bertone p martone r luscombe nm hartman s harrison pm nelson fk miller p gerstein m weissman s snyder m 2003 the transcriptional activity of human chromosome 22 genes dev 17 4 529 40 doi 10 1101 gad 1055203 pmc 195998 pmid 12600945 wilson hl wong ac shaw sr tse wy stapleton ga phelan mc hu s marshall j mcdermid he et al 2003 molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of shank3 prosasp2 in the major neurological symptoms j med genet 40 8 575 584 doi 10 1136 jmg 40 8 575 pmc 1735560 pmid 12920066 external links edit wikimedia commons has media related to human chromosome 22 national institutes of health chromosome 22 genetics home reference archived from the original on 5 june 2011 retrieved 6 may 2017 chromosome 22 human genome project information archive 1990 2003 retrieved 6 may 2017 v t e human genome nuclear genome autosome 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 sex chromosome x y mitochondrial genome human mitochondrial dna related topics human genome human genome project list of human genes human archaeology v t e cytogenetics chromosomes basic concepts karyotype ploidy genetic material genome chromatin euchromatin heterochromatin chromosome chromatid nucleosome nuclear organization types autosome sex chromosome or allosome or heterosome macrochromosome microchromosome circular chromosome linear chromosome extra chromosome or accessory chromosome supernumerary chromosome a chromosome b chromosome lampbrush chromosome polytene chromosome dinoflagellate chromosomes homologous chromosome isochromosome satellite chromosome centromere position metacentric submetacentric telocentric acrocentric holocentric centromere number acentric monocentric dicentric polycentric processes and evolut...