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Numerical Chromosomal Abnormality

MedGen UID:
273619
•Concept ID:
C1518472
•
Cell or Molecular Dysfunction
Synonyms: Numerical Chromosomal Abnormalities; Numerical Chromosome Aberration; Numerical Chromosome Anomalies; Numerical Chromosome Anomaly

Definition

An irregularity in the number of chromosomes. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNumerical Chromosomal Abnormality

Professional guidelines

PubMed

Prenatal evaluation of genetic variants in fetuses with small head circumference: A single-center retrospective study.
Liu J, Liu Q, Zhao J, Lin S, Zhou Y
Eur J Obstet Gynecol Reprod Biol 2024 Feb;293:57-66. Epub 2023 Dec 12 doi: 10.1016/j.ejogrb.2023.12.004. PMID: 38113582

Recent clinical studies

Etiology

Prenatal evaluation of genetic variants in fetuses with small head circumference: A single-center retrospective study.
Liu J, Liu Q, Zhao J, Lin S, Zhou Y
Eur J Obstet Gynecol Reprod Biol 2024 Feb;293:57-66. Epub 2023 Dec 12 doi: 10.1016/j.ejogrb.2023.12.004. PMID: 38113582
Retrospective analysis of 4761 cases who underwent amniocentesis in southeast China.
Tao H, Xiao J, Yang C, Wang J, Tang Y, Guo C, Wang J
J Obstet Gynaecol 2018 Jan;38(1):38-41. Epub 2017 Aug 1 doi: 10.1080/01443615.2017.1326887. PMID: 28764586
Clinical and cytogenetic results of a large series of amniocentesis cases from Turkey: report of 6124 cases.
Ocak Z, Özlü T, Yazıcıoğlu HF, Özyurt O, Aygün M
J Obstet Gynaecol Res 2014 Jan;40(1):139-46. Epub 2013 Sep 5 doi: 10.1111/jog.12144. PMID: 24033845
Cytogenetic studies in amenorrhea.
Rajangam S, Nanjappa L
Saudi Med J 2007 Feb;28(2):187-92. PMID: 17268694
Numerical chromosomal abnormality in gastric MALT lymphoma and diffuse large B-cell lymphoma.
Watanobe I, Takamori S, Kojima K, Fukasawa M, Beppu T, Futagawa S, Hirai S
J Gastroenterol 2002;37(9):691-6. doi: 10.1007/s005350200113. PMID: 12375141

Diagnosis

Prenatal evaluation of genetic variants in fetuses with small head circumference: A single-center retrospective study.
Liu J, Liu Q, Zhao J, Lin S, Zhou Y
Eur J Obstet Gynecol Reprod Biol 2024 Feb;293:57-66. Epub 2023 Dec 12 doi: 10.1016/j.ejogrb.2023.12.004. PMID: 38113582
Retrospective analysis of 4761 cases who underwent amniocentesis in southeast China.
Tao H, Xiao J, Yang C, Wang J, Tang Y, Guo C, Wang J
J Obstet Gynaecol 2018 Jan;38(1):38-41. Epub 2017 Aug 1 doi: 10.1080/01443615.2017.1326887. PMID: 28764586
Embryo selection versus natural selection: how do outcomes of comprehensive chromosome screening of blastocysts compare with the analysis of products of conception from early pregnancy loss (dilation and curettage) among an assisted reproductive technology population?
Rodriguez-Purata J, Lee J, Whitehouse M, Moschini RM, Knopman J, Duke M, Sandler B, Copperman A
Fertil Steril 2015 Dec;104(6):1460-66.e1-12. Epub 2015 Sep 8 doi: 10.1016/j.fertnstert.2015.08.007. PMID: 26361205
Clinical and cytogenetic results of a large series of amniocentesis cases from Turkey: report of 6124 cases.
Ocak Z, Özlü T, Yazıcıoğlu HF, Özyurt O, Aygün M
J Obstet Gynaecol Res 2014 Jan;40(1):139-46. Epub 2013 Sep 5 doi: 10.1111/jog.12144. PMID: 24033845
Infertility caused by male partners with genetic defects in Sichuan Province of China.
Quan Q, Li TJ, Ding XP, Wei J, Li LX, Fu L
Genet Mol Res 2013 Dec 11;12(4):6512-20. doi: 10.4238/2013.December.11.2. PMID: 24390997

Therapy

Trisomy 8 in a patient who responded to therapy with all-trans-retinoic acid and developed paroxysmal nocturnal haemoglobinuria.
Viniou N, Michali E, Meletis J, Andreopoulos A, Vaiopoulos G, Stavroyianni N, Loukopoulos D, Yataganas X
Br J Haematol 1997 Apr;97(1):135-6. doi: 10.1046/j.1365-2141.1997.d01-2123.x. PMID: 9136954

Prognosis

Embryo selection versus natural selection: how do outcomes of comprehensive chromosome screening of blastocysts compare with the analysis of products of conception from early pregnancy loss (dilation and curettage) among an assisted reproductive technology population?
Rodriguez-Purata J, Lee J, Whitehouse M, Moschini RM, Knopman J, Duke M, Sandler B, Copperman A
Fertil Steril 2015 Dec;104(6):1460-66.e1-12. Epub 2015 Sep 8 doi: 10.1016/j.fertnstert.2015.08.007. PMID: 26361205
Clinical and cytogenetic results of a large series of amniocentesis cases from Turkey: report of 6124 cases.
Ocak Z, Özlü T, Yazıcıoğlu HF, Özyurt O, Aygün M
J Obstet Gynaecol Res 2014 Jan;40(1):139-46. Epub 2013 Sep 5 doi: 10.1111/jog.12144. PMID: 24033845
Cytogenetic studies in amenorrhea.
Rajangam S, Nanjappa L
Saudi Med J 2007 Feb;28(2):187-92. PMID: 17268694
Trisomy 10 and acute myeloid leukemia.
Czepulkowski B, Powell AR, Pagliuca A, Mufti GJ
Cancer Genet Cytogenet 2002 Apr 1;134(1):81-3. doi: 10.1016/s0165-4608(01)00593-3. PMID: 11996802
Different vulnerability among chromosomes to numerical instability in gastric carcinogenesis: stage-dependent analysis by FISH with the use of microwave irradiation.
Kitayama Y, Igarashi H, Sugimura H
Clin Cancer Res 2000 Aug;6(8):3139-46. PMID: 10955795

Clinical prediction guides

Prenatal evaluation of genetic variants in fetuses with small head circumference: A single-center retrospective study.
Liu J, Liu Q, Zhao J, Lin S, Zhou Y
Eur J Obstet Gynecol Reprod Biol 2024 Feb;293:57-66. Epub 2023 Dec 12 doi: 10.1016/j.ejogrb.2023.12.004. PMID: 38113582
Embryo selection versus natural selection: how do outcomes of comprehensive chromosome screening of blastocysts compare with the analysis of products of conception from early pregnancy loss (dilation and curettage) among an assisted reproductive technology population?
Rodriguez-Purata J, Lee J, Whitehouse M, Moschini RM, Knopman J, Duke M, Sandler B, Copperman A
Fertil Steril 2015 Dec;104(6):1460-66.e1-12. Epub 2015 Sep 8 doi: 10.1016/j.fertnstert.2015.08.007. PMID: 26361205
Clinical and cytogenetic results of a large series of amniocentesis cases from Turkey: report of 6124 cases.
Ocak Z, Özlü T, Yazıcıoğlu HF, Özyurt O, Aygün M
J Obstet Gynaecol Res 2014 Jan;40(1):139-46. Epub 2013 Sep 5 doi: 10.1111/jog.12144. PMID: 24033845
Cytogenetic studies in amenorrhea.
Rajangam S, Nanjappa L
Saudi Med J 2007 Feb;28(2):187-92. PMID: 17268694
Numerical chromosomal abnormality in gastric MALT lymphoma and diffuse large B-cell lymphoma.
Watanobe I, Takamori S, Kojima K, Fukasawa M, Beppu T, Futagawa S, Hirai S
J Gastroenterol 2002;37(9):691-6. doi: 10.1007/s005350200113. PMID: 12375141

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