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Abnormal chromosome morphology

MedGen UID:
1617041
Concept ID:
C4531140
Anatomical Abnormality
HPO: HP:0031411

Definition

Any structural anomaly of a chromosome, which is a thread like molecule consisting of DNA and proteins (chromatin) that contains DNA sequences for genes and other genetic elements in linear order. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal chromosome morphology

Professional guidelines

PubMed

Krausz C, Navarro-Costa P, Wilke M, Tüttelmann F
Andrology 2024 Mar;12(3):487-504. Epub 2023 Sep 6 doi: 10.1111/andr.13514. PMID: 37674303
Leigh D, Cram DS, Rechitsky S, Handyside A, Wells D, Munne S, Kahraman S, Grifo J, Katz-Jaffe M, Rubio C, Viotti M, Forman E, Xu K, Gordon T, Madjunkova S, Qiao J, Chen ZJ, Harton G, Gianaroli L, Simon C, Scott R, Simpson JL, Kuliev A
Reprod Biomed Online 2022 Jul;45(1):19-25. Epub 2022 Mar 20 doi: 10.1016/j.rbmo.2022.03.013. PMID: 35523707
Hallek M
Am J Hematol 2019 Nov;94(11):1266-1287. Epub 2019 Oct 4 doi: 10.1002/ajh.25595. PMID: 31364186

Recent clinical studies

Etiology

Rodrigo L, Meseguer M, Mateu E, Mercader A, Peinado V, Bori L, Campos-Galindo I, Milán M, García-Herrero S, Simón C, Rubio C
Biol Reprod 2019 Dec 24;101(6):1091-1101. doi: 10.1093/biolre/ioz125. PMID: 31318411
Del Carmen Nogales M, Bronet F, Basile N, Martínez EM, Liñán A, Rodrigo L, Meseguer M
Fertil Steril 2017 Jan;107(1):229-235.e2. Epub 2016 Nov 2 doi: 10.1016/j.fertnstert.2016.09.019. PMID: 27816230
Watson CT, Marques-Bonet T, Sharp AJ, Mefford HC
Annu Rev Genomics Hum Genet 2014;15:215-244. Epub 2014 Apr 16 doi: 10.1146/annurev-genom-091212-153408. PMID: 24773319Free PMC Article
Mania A, Mantzouratou A, Delhanty JD, Baio G, Serhal P, Sengupta SB
Reprod Biomed Online 2014 May;28(5):624-37. Epub 2014 Jan 24 doi: 10.1016/j.rbmo.2013.12.010. PMID: 24581987
Emanuel R
Br Heart J 1970 May;32(3):281-91. doi: 10.1136/hrt.32.3.281. PMID: 4246190Free PMC Article

Diagnosis

Viotti M
Genes (Basel) 2020 May 29;11(6) doi: 10.3390/genes11060602. PMID: 32485954Free PMC Article
Barkovich AJ, Kuzniecky RI, Dobyns WB, Jackson GD, Becker LE, Evrard P
Neuropediatrics 1996 Apr;27(2):59-63. doi: 10.1055/s-2007-973750. PMID: 8737819
Pinar H, Carpenter MW, Abuelo D, Singer DB
Pediatr Pathol 1994 May-Jun;14(3):467-78. doi: 10.3109/15513819409024276. PMID: 8066003
Webb T
J Med Genet 1994 Aug;31(8):585-94. doi: 10.1136/jmg.31.8.585. PMID: 7815414Free PMC Article
Nadler HL
J Pediatr 1969 Jan;74(1):132-43. doi: 10.1016/s0022-3476(69)80023-5. PMID: 4882540

Therapy

Del Carmen Nogales M, Bronet F, Basile N, Martínez EM, Liñán A, Rodrigo L, Meseguer M
Fertil Steril 2017 Jan;107(1):229-235.e2. Epub 2016 Nov 2 doi: 10.1016/j.fertnstert.2016.09.019. PMID: 27816230
Committee on Practice Bulletins—Obstetrics and the American Institute of Ultrasound in Medicine
Obstet Gynecol 2016 Dec;128(6):e241-e256. doi: 10.1097/AOG.0000000000001815. PMID: 27875472
Kalfa N, Philibert P, Sultan C
Int J Androl 2009 Jun;32(3):187-97. Epub 2008 Jul 11 doi: 10.1111/j.1365-2605.2008.00899.x. PMID: 18637150
Rydberg B
Acta Oncol 2001;40(6):682-5. doi: 10.1080/02841860152619070. PMID: 11765060
Schwarz RH
Clin Obstet Gynecol 1975 Jun;18(2):1-22. doi: 10.1097/00003081-197506000-00001. PMID: 1095272

Prognosis

Zotova OV, Lukianova AS, Valchuk MO, Karol YS, Shalay OO, Novak VL, Loginsky VE
Exp Oncol 2021 Sep;43(3):229-233. doi: 10.32471/exp-oncology.2312-8852.vol-43-no-3.16495. PMID: 34591430
Rodrigo L, Meseguer M, Mateu E, Mercader A, Peinado V, Bori L, Campos-Galindo I, Milán M, García-Herrero S, Simón C, Rubio C
Biol Reprod 2019 Dec 24;101(6):1091-1101. doi: 10.1093/biolre/ioz125. PMID: 31318411
Criel A, Michaux L, De Wolf-Peeters C
Leuk Lymphoma 1999 Mar;33(1-2):33-45. doi: 10.3109/10428199909093723. PMID: 10194119
Barkovich AJ, Kuzniecky RI, Dobyns WB, Jackson GD, Becker LE, Evrard P
Neuropediatrics 1996 Apr;27(2):59-63. doi: 10.1055/s-2007-973750. PMID: 8737819
Webb T
J Med Genet 1994 Aug;31(8):585-94. doi: 10.1136/jmg.31.8.585. PMID: 7815414Free PMC Article

Clinical prediction guides

Rodrigo L, Meseguer M, Mateu E, Mercader A, Peinado V, Bori L, Campos-Galindo I, Milán M, García-Herrero S, Simón C, Rubio C
Biol Reprod 2019 Dec 24;101(6):1091-1101. doi: 10.1093/biolre/ioz125. PMID: 31318411
Watson CT, Marques-Bonet T, Sharp AJ, Mefford HC
Annu Rev Genomics Hum Genet 2014;15:215-244. Epub 2014 Apr 16 doi: 10.1146/annurev-genom-091212-153408. PMID: 24773319Free PMC Article
Zietkiewicz E, Wojda A, Witt M
J Appl Genet 2009;50(3):261-73. doi: 10.1007/BF03195682. PMID: 19638683
Krämer A, Neben K, Ho AD
Leukemia 2002 May;16(5):767-75. doi: 10.1038/sj.leu.2402454. PMID: 11986936
Criel A, Michaux L, De Wolf-Peeters C
Leuk Lymphoma 1999 Mar;33(1-2):33-45. doi: 10.3109/10428199909093723. PMID: 10194119

Recent systematic reviews

Cinnioglu C, Glessner H, Jordan A, Bunshaft S
Fertil Steril 2023 Aug;120(2):235-239. Epub 2023 Jun 24 doi: 10.1016/j.fertnstert.2023.06.013. PMID: 37356468
Giulioni C, Maurizi V, Castellani D, Scarcella S, Skrami E, Balercia G, Galosi AB
Andrology 2022 Oct;10(7):1250-1271. Epub 2022 Jul 18 doi: 10.1111/andr.13228. PMID: 35793270Free PMC Article
van Dijk MM, Kolte AM, Limpens J, Kirk E, Quenby S, van Wely M, Goddijn M
Hum Reprod Update 2020 Apr 15;26(3):356-367. doi: 10.1093/humupd/dmz048. PMID: 32103270Free PMC Article
D'Antonio F, Khalil A, Garel C, Pilu G, Rizzo G, Lerman-Sagie T, Bhide A, Thilaganathan B, Manzoli L, Papageorghiou AT
Ultrasound Obstet Gynecol 2016 Jun;47(6):690-7. Epub 2016 May 10 doi: 10.1002/uog.14900. PMID: 25970099
Saldarriaga W, García-Perdomo HA, Arango-Pineda J, Fonseca J
Am J Obstet Gynecol 2015 Mar;212(3):330.e1-10. Epub 2014 Oct 18 doi: 10.1016/j.ajog.2014.10.011. PMID: 25305409

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