Prstenasti hromosom

Prstenasti hromosom je aberantni hromosom čiji su krajevi spojeni i formiraju prsten. Prstenaste hromozome prvi je otkrio Lilian Vaughan Morgan, 1926.^[1] Prstenasti hromosom označava se simbolom r u ljudskoj genetici i R u genetici roda Drosophila. Prstenasti hromosomi se mogu formirati u ćelijama nakon genetičkog oštećenja mutagenima kao što je zračenje, ali mogu nastati i spontano tokom razvoja.

Formiranje

Da bi hromosom formirao prsten, obično mu nedostaju oba kraja, što omogućava da seoštećeni krajevi međusobno spoje. U rijetkim slučajevima, telomere na krajevima hromosoma spajaju se bez ikakvog gubitka genetičkog materijala, što rezultira normalnim fenotipom.^[2]

Kompleksna preuređivanja, uključujući segmentne mikrodelecije i mikroduplikacije, javljaju se u brojnim prstenastim hromofomima, dajući važne tragove u vezi sa mehanizmima njihovog formiranja.^[3]

Mogu se formirati i mali suvišni prstenovi, što rezultira djelimičnom trisomijom.^[4]

Prstenasti hromosomi su nestabilni tokom ćelijske diobe i mogu formirati međusobno povezane ili spojene prstenove.^[4]

Povezani sindromi

Ljudski genetički poremećaji mogu biti uzrokovani formiranjem prstenastog hromosoma. Iako su vrlo rijetki, pronađeni su u svim ljudskim hromosomima. Simptomi uočeni kod pacijenata koji nose prstenaste hromosome vjerojatnije su uzrokovani delecijama gena u telomernim regijama zahvaćenih hromosoma, prije nego formiranjem same prstenaste strukture.^[5] Skoro svi sindromi prstenastih hromosoma obilježeni su značajni kašnjenjem rasta.^[4]

Prstenasti hromosomi mogu biti nasljedni ili sporadični. Na ozbiljnost stanja utiču česti mozaicizmi.^[5] Na ozbiljnost također utiče lokacija fuzije, zbog gubitka različitih količina genetičkog materijala sa hromosomskih krajeva.

Poremećaji koji proizlaze iz formiranja prstenastog hromozoma uključuju:


Hromosom	Tipska obilježja
Prstenasati hromosom 1	Intelektualna invalidnost, mikrocefalija, abnormalnosti lica	^[6]
Prstenasti hromosom 2	Nizak rast	^[7]^[8]
Prstenasti hromosom 3		^[9]
Prstenasrti hromosom 4	Abnormalnosti lobanje i lica	^[10]
Prstenasti hromosom 5		^[11]
Prstenasti hromosom 6	Mikrocefalija, abnormalnosti lica i šaka	^[12]
Prstenasti hromosom 7	Abnormalnosti lobanje i lica, govorni deficiti	^[13]
Prstenasti hromosom 8	Abnormalnosti lobanje i lica, hidronefroza nenormalnosti šaka	^[14]
Prstenasti hromosom 9	Usporen rast, abnormalne crte lica, nizak mišićni tonus	^[15]
Prstenasti hromosom 10	Intelektualna nesposobnost, odloženi rast, facijalna dismorfija, reproduktivne abnormalnosti	^[16]
Prstenastihromosom 11		^[17]
Prstenasti hromosom 12	Usporen rast, abnormalne crte lica, mikrocefalija	^[18]^[19]
Prstenastihromosom 13	Mikrocefalija, odloženi rast, reproduktivne abnormalnosti	^[20]
Prstenasti hromosom 14	Epilepsija, intelektualna zaostalost	^[21]
Prstenasti hromosom 15	Zastoj u rastu, mentalna retardacija, mikrocefalija, kašnjenje govora	^[22]
Prstenasti hromosom 16	Mentalna retardacija, mikrocefalija, kašnjenje rasta, abnormalnosti lica	^[23]^[24]
Prstenasti hromosom 17		^[25]
Prstenasti hromosom 18	Mentalna retardacija, kašnjenje u rastu, abnormalnosti lica	^[26]
Prstenasti hromosom 19		^[27]
Prstenasti hromosom 20	Epilepsija, mentalna retardacija, abnormalne crte lica, kašnjenje u rastu	^[28]
Prstenasti hromosom 21	Nizak rast, mikrocefalija, reproduktivne abnormalnosti	^[29]
Prstenasti hromosom 22	Mentalna retardacija, hipotonija, autistično ponašanje	^[30]
Prstenasti hromosom X	Turnerov sindrom
Prstenasti hromosom Y		^[31]

Također pogledajte

Hromosomske abnormalnosti

Reference

^ Morgan, LV (Mar 1926). "Correlation between Shape and Behavior of a Chromosome". Proceedings of the National Academy of Sciences of the United States of America. 12 (3): 180–1. doi:10.1073/pnas.12.3.180. PMC 1084483. PMID 16576974.
^ Mitotic and meiotic behaviour of a naturally transmitted ring Y chromosome: reproductive risk evaluation Núria Arnedo, Carme Nogués, Mercè Bosch and Cristina Templado
^ Shchelochkov O et al., Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) Provides Insight into the Possible Mechanism of Rearrangement, Molecular Cytogenetics 2008, 1:16
^ ^a ^b ^c Yip, Moh-Ying (2015). "Autosomal ring chromosomes in human genetic disorders". Translational Pediatrics. 4 (2): 164–174. doi:10.3978/j.issn.2224-4336.2015.03.04. PMC 4729093. PMID 26835370.
^ ^a ^b Nelson Textbook of Pediatrics, Chapter 81, 604-627 https://www.clinicalkey.com/#!/content/book/3-s2.0-B9781455775668000818?scrollTo=%23hl0003126
^ "Ring chromosome 1 - Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Arhivirano s originala, 3. 2. 2022. Pristupljeno 3. 2. 2022.
^ "Orphanet: Ring chromosome 2 syndrome". www.orpha.net.
^ "Ring 2" (PDF). Arhivirano s originala (PDF), 5. 12. 2017. Pristupljeno 3. 2. 2022.
^ "Orphanet: Ring chromosome 3 syndrome". www.orpha.net.
^ "Orphanet: Ring chromosome 4 syndrome". www.orpha.net.
^ "Orphanet: Ring chromosome 5 syndrome". www.orpha.net.
^ "Orphanet: Ring chromosome 6 syndrome". www.orpha.net.
^ "Orphanet: Ring chromosome 7 syndrome". www.orpha.net.
^ "Ring chromosome 8 - Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Arhivirano s originala, 3. 2. 2022. Pristupljeno 3. 2. 2022.
^ "Ring 9" (PDF). Arhivirano s originala (PDF), 18. 4. 2016. Pristupljeno 3. 2. 2022.
^ "Orphanet: Ring chromosome 10 syndrome". www.orpha.net.
^ "Ring chromosome 11 - Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Arhivirano s originala, 3. 2. 2022. Pristupljeno 3. 2. 2022.
^ "Orphanet: Ring chromosome 12 syndrome". www.orpha.net.
^ "Ring chromosome 12 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov (jezik: engleski). Arhivirano s originala, 3. 2. 2022. Pristupljeno 4. 12. 2017.
^ "Ring chromosome 13 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov (jezik: engleski). Arhivirano s originala, 3. 2. 2022. Pristupljeno 4. 12. 2017.
^ "Orphanet: Ring chromosome 13 syndrome". www.orpha.net.
^ "Ring 15" (PDF). Arhivirano s originala (PDF), 5. 12. 2017. Pristupljeno 3. 2. 2022.
^ "Orphanet: Ring chromosome 16 syndrome". www.orpha.net.
^ "Ring chromosome 16 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov (jezik: engleski). Arhivirano s originala, 3. 2. 2022. Pristupljeno 4. 12. 2017.
^ "Orphanet: Ring chromosome 17 syndrome". www.orpha.net.
^ "Orphanet: Ring chromosome 18 syndrome". www.orpha.net.
^ "Orphanet: Ring chromosome 19 syndrome". www.orpha.net.
^ "Ring chromosome 20 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov (jezik: engleski). Arhivirano s originala, 3. 2. 2022. Pristupljeno 4. 12. 2017.
^ "Orphanet: Ring chromosome 21 syndrome". www.orpha.net.
^ "Orphanet: Ring chromosome 22 syndrome". www.orpha.net.
^ "Orphanet: Ring chromosome Y syndrome". www.orpha.net.

Vanjski linkovi

Atlas of Genetics and Cytogenetics in Oncology and Haematology Arhivirano 24. 8. 2007. na Wayback Machine, explains HOW the ring formation causes abnormalities.

[1] Morgan, LV (Mar 1926). "Correlation between Shape and Behavior of a Chromosome". Proceedings of the National Academy of Sciences of the United States of America. 12 (3): 180–1. doi:10.1073/pnas.12.3.180. PMC 1084483. PMID 16576974.

[2] Mitotic and meiotic behaviour of a naturally transmitted ring Y chromosome: reproductive risk evaluation Núria Arnedo, Carme Nogués, Mercè Bosch and Cristina Templado

[3] Shchelochkov O et al., Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) Provides Insight into the Possible Mechanism of Rearrangement, Molecular Cytogenetics 2008, 1:16

[TPed-4] Yip, Moh-Ying (2015). "Autosomal ring chromosomes in human genetic disorders". Translational Pediatrics. 4 (2): 164–174. doi:10.3978/j.issn.2224-4336.2015.03.04. PMC 4729093. PMID 26835370.

[Nelson-5] Nelson Textbook of Pediatrics, Chapter 81, 604-627 https://www.clinicalkey.com/#!/content/book/3-s2.0-B9781455775668000818?scrollTo=%23hl0003126

[6] "Ring chromosome 1 - Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Arhivirano s originala, 3. 2. 2022. Pristupljeno 3. 2. 2022.

[7] "Orphanet: Ring chromosome 2 syndrome". www.orpha.net.

[8] "Ring 2" (PDF). Arhivirano s originala (PDF), 5. 12. 2017. Pristupljeno 3. 2. 2022.

[9] "Orphanet: Ring chromosome 3 syndrome". www.orpha.net.

[10] "Orphanet: Ring chromosome 4 syndrome". www.orpha.net.

[11] "Orphanet: Ring chromosome 5 syndrome". www.orpha.net.

[12] "Orphanet: Ring chromosome 6 syndrome". www.orpha.net.

[13] "Orphanet: Ring chromosome 7 syndrome". www.orpha.net.

[14] "Ring chromosome 8 - Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Arhivirano s originala, 3. 2. 2022. Pristupljeno 3. 2. 2022.

[15] "Ring 9" (PDF). Arhivirano s originala (PDF), 18. 4. 2016. Pristupljeno 3. 2. 2022.

[16] "Orphanet: Ring chromosome 10 syndrome". www.orpha.net.

[17] "Ring chromosome 11 - Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Arhivirano s originala, 3. 2. 2022. Pristupljeno 3. 2. 2022.

[18] "Orphanet: Ring chromosome 12 syndrome". www.orpha.net.

[19] "Ring chromosome 12 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov (jezik: engleski). Arhivirano s originala, 3. 2. 2022. Pristupljeno 4. 12. 2017.

[20] "Ring chromosome 13 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov (jezik: engleski). Arhivirano s originala, 3. 2. 2022. Pristupljeno 4. 12. 2017.

[21] "Orphanet: Ring chromosome 13 syndrome". www.orpha.net.

[22] "Ring 15" (PDF). Arhivirano s originala (PDF), 5. 12. 2017. Pristupljeno 3. 2. 2022.

[23] "Orphanet: Ring chromosome 16 syndrome". www.orpha.net.

[24] "Ring chromosome 16 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov (jezik: engleski). Arhivirano s originala, 3. 2. 2022. Pristupljeno 4. 12. 2017.

[25] "Orphanet: Ring chromosome 17 syndrome". www.orpha.net.

[26] "Orphanet: Ring chromosome 18 syndrome". www.orpha.net.

[27] "Orphanet: Ring chromosome 19 syndrome". www.orpha.net.

[28] "Ring chromosome 20 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov (jezik: engleski). Arhivirano s originala, 3. 2. 2022. Pristupljeno 4. 12. 2017.

[29] "Orphanet: Ring chromosome 21 syndrome". www.orpha.net.

[30] "Orphanet: Ring chromosome 22 syndrome". www.orpha.net.

[31] "Orphanet: Ring chromosome Y syndrome". www.orpha.net.

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