54:(Mb) (from 141.5 Mb to 147.9 Mb). Within 1q21.1 there are two areas where the CNVs can be found: the proximal area or TAR area (144.1 to 144.5) and the distal area (144.7 to 145.9). A 1q21.1 CNV will commonly be found in one of these areas, but an overlap with the other area or parts that are outside these areas are possible. 1q21.1 has multiple repetitions of the same structure: Only 25% of the structure is not duplicated. There are several gaps in the sequence. There is no further information available about the DNA-sequence in those areas up till now. The gaps represent approximately 700 Kilobase. New genes are expected in the gaps. The area of 1q21.1 is one of the most difficult parts of the human genome to map.
142:. Due to the CNV chromosomes of different sizes can be combined in a new cell. If this occurs around conception, the result will be a first cell of a human with a genetic variation. This can be either positive or negative. In positive cases this new human will be capable of a special skill that is assessed positively, for example, in sports or science. In negative cases, you have to deal with a syndrome or a severe disability, as in this case the 1q21.1 CNVs.
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In a common situation a human cell has one pair of identical chromosomes on chromosome 1. With the 1q21.1 CNVs one chromosome of the pair is not complete because a part of the sequence of the chromosome is missing, or overcomplete, because some parts of the sequence are duplicated. The result is that
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is the process of dividing cells in humans. In meiosis, the chromosome pairs splits and a representative of each pair goes to one daughter cell. In this way the number of chromosomes will be halved in each cell, while all the parts on the chromosome (genes) remain, after being randomized. Which
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Problem of the second random process is that genetic mistakes can occur. Especially due to the deletion and duplication process, the chromosomes that come together in a new cell may be shorter or longer. The result of this spontaneous change in the structure of DNA is a so-called
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Due to this genetic misprint the embryo may experience problems in the development during the first months of pregnancy. Approximately 20 to 40 days after fertilization, something goes wrong in the construction of the body parts and brain, which leads to a chain reaction.
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information of the parent cell ends up in the daughter cell is purely decided by chance. Besides this random process, there is a second random process. In this second random process the DNA will be scrambled in a way that pieces are omitted (
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and the manifestations in individuals are quite variable. Some people who have a CNV can function in a normal way, while others have symptoms of mental retardation and various physical anomalies.
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2. a parent is unknowingly carrier of a chromosome with a copy number variation and passes it through at conception to the child, with different consequences for the child.
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1. a spontaneous deviation (a 'de novo' situation): two chromosomes come together of which one has a copy number variation as a result of the meiosis process.
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134:). This is a common process, which leads to about 0,4% variation in the DNA. It explains why even identical twins are not genetically 100% identical.
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Understanding the impact of 1q21.1 Copy Number
Variant; C. Harvard et al; Orphanet Journal of Rare Diseases 2011, 6:54;
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The structure of 1q21.1 is complex. The area has a size of approximately 6 Mega
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one chromosome is of normal length and the other one is too long or too short.
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Based on the meiotic process, the syndrome may occur in two ways.
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Four separate forms of 1q21.1 CNVs are mentioned in literature.
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65:(sequentially similar regions), commonly found in 1q21.1.
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The structure of 1q21.1; similar regions in the same color
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1095:46,XX testicular disorders of sex development
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917:Acute myeloblastic leukemia with maturation
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79:1q21.1 proximal deletions and duplications
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172:Genes related to the proximal area are
233:Genes related to the distal area are
95:the distal duplication, known as the
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126:), moved from one place to another (
59:non-allelic homologous recombination
1030:Desmoplastic small-round-cell tumor
1176:Autosomal monosomies and deletions
89:the distal deletion, known as the
14:
102:The CNVs lead to a very variable
603:22q11.2 distal deletion syndrome
1002:Dermatofibrosarcoma protuberans
945:Acute megakaryoblastic leukemia
873:Anaplastic large-cell lymphoma
535:Chromosome 5q deletion syndrome
34:are rare aberrations of human
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725:Klinefelter syndrome (47,XXY)
490:1q21.1 copy number variations
1186:Animal developmental biology
931:Acute promyelocytic leukemia
887:Acute lymphoblastic leukemia
579:17q12 microdeletion syndrome
454:22q11.2 duplication syndrome
432:16p11.2 duplication syndrome
498:1q21.1 duplication syndrome
385:1q21.1 duplication syndrome
97:1q21.1 duplication syndrome
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1044:Alveolar rhabdomyosarcoma
779:XYYYY syndrome (49,XYYYY)
745:XXXXY syndrome (49,XXXXY)
740:XXXYY syndrome (49,XXXYY)
519:Wolf–Hirschhorn syndrome
494:1q21.1 deletion syndrome
357:Chromosome abnormalities
91:1q21.1 deletion syndrome
903:Philadelphia chromosome
774:XYYY syndrome (48,XYYY)
735:XXXY syndrome (48,XXXY)
730:XXYY syndrome (48,XXYY)
615:22q13 deletion syndrome
390:2q31.1 microduplication
46:The structure of 1q21.1
762:Pentasomy X (49,XXXXX)
694:Turner syndrome (45,X)
575:Smith–Magenis syndrome
571:Miller–Dieker syndrome
506:1p36 deletion syndrome
314:10.1186/1750-1172-6-54
30:copy number variations
24:
769:XYY syndrome (47,XYY)
757:Tetrasomy X (48,XXXX)
640:Prader–Willi syndrome
140:copy number variation
110:Cause of the syndrome
22:
1166:Congenital disorders
861:Mantle cell lymphoma
531:Cri du chat syndrome
69:Forms of 1q21.1 CNVs
847:Follicular lymphoma
1086:Uniparental disomy
1081:Fragile X syndrome
1016:Myxoid liposarcoma
868:t(11 CCND1:14 IGH)
752:Trisomy X (47,XXX)
630:genomic imprinting
410:Distal trisomy 10q
57:CNVs occur due to
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1100:Marker chromosome
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636:Angelman syndrome
591:DiGeorge syndrome
559:Jacobsen syndrome
547:Williams syndrome
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1181:Medical genetics
1091:XX male syndrome
988:Synovial sarcoma
865:Multiple myeloma
833:Burkitt lymphoma
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713:other karyotypes
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464:Cat-eye syndrome
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16:Genetic mutation
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442:Down syndrome
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168:Related genes
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502:TAR syndrome
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405:Tetrasomy 9p
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85:TAR syndrome
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61:mediated by
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36:chromosome 1
27:
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791:46,XX/46,XY
708:tetrasomies
654:Distal 18q-
124:duplication
1161:Hematology
1155:Categories
786:45,X/46,XY
686:Monosomies
459:Trisomy 22
437:Trisomy 18
427:Trisomy 16
375:including
297:References
122:), added (
704:Trisomies
481:Deletions
400:Trisomy 9
395:Trisomy 8
377:trisomies
365:Autosomal
132:inversion
104:phenotype
826:Lymphoid
818:lymphoma
814:Leukemia
120:deletion
1054:) t (1
921:RUNX1T1
896:Myeloid
717:mosaics
287:PDZK1P1
235:PDE4DIP
202:ANKRD35
182:POLR3GL
162:meiosis
115:Meiosis
28:1q21.1
1006:COL1A1
678:linked
291:NBPF11
283:GPR89C
279:GPR89B
275:NBPF10
247:PDIA3P
243:PRKAB2
239:HYDIN2
230:GPR89A
228:, and
218:RNF115
214:POLR3C
210:NUDT17
198:ITGA10
194:PEX11B
32:(CNVs)
1074:Other
1060:FOXO1
1058:; 13
1052:FOXO1
1050:; 13
1036:; 22
1032:t(11
1022:; 16
1020:DDIT3
1018:t(12
1010:PDGFB
1004:t(17
980:; 22
976:t(11
967:Other
949:RBM15
933:t(15
925:RUNX1
909:; 22
849:t(14
255:CHD1L
226:PDZK1
222:CD160
206:PIAS3
190:RBM8A
186:LIX1L
178:TXNIP
1056:PAX7
1048:PAX3
1046:t(2
1008:;22
994:;18
990:t(x
978:FLI1
953:MKL1
951:;22
947:t(1
939:RARA
937:,17
923:;21
919:t(8
905:t(9
881:NPM1
875:t(2
855:BCL2
853:;18
839:;14
835:t(8
289:and
271:GJA8
267:GJA5
263:ACP6
259:BCL9
251:FMO5
174:HFE2
83:the
77:the
52:base
1038:EWS
1034:WT1
1024:FUS
996:SSX
992:SYT
982:EWS
935:PML
911:BCR
907:ABL
879:;5
877:ALK
851:IGH
841:IGH
837:MYC
310:doi
1157::
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349:e
342:t
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