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Nondisjunction

MedGen UID:
320427
•Concept ID:
C1834741
•
Disease or Syndrome
Synonym: MOSAICISM, CHROMOSOMAL
 
Monarch Initiative: MONDO:0008014
OMIM®: 158250

Definition

Chromosomal mosaicism as described here refers to a tendency to chromosomal nondisjunction. See also premature chromatid separation (PCS; 176430), which may also predispose to chromosomal nondisjunction. [from OMIM]

Clinical features

From HPO
Decreased fertility
MedGen UID:
452706
•Concept ID:
C0729353
•
Finding
See: Feature record | Search on this feature
Abnormality of chromosome segregation
MedGen UID:
871193
•Concept ID:
C4025670
•
Finding
An abnormality of chromosome segregation.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Clinical utility of expanded NIPT for chromosomal abnormalities and etiology analysis of cytogenetic discrepancies cases.
Hu Y, Liu W, He G, Xu J, Peng Y, Wang J
J Assist Reprod Genet 2022 Jan;39(1):267-279. Epub 2022 Jan 9 doi: 10.1007/s10815-021-02351-6. PMID: 35000096Free PMC Article
The Status of Genetic Screening in Recurrent Pregnancy Loss.
Kaser D
Obstet Gynecol Clin North Am 2018 Mar;45(1):143-154. doi: 10.1016/j.ogc.2017.10.007. PMID: 29428282
Cytogenetic analysis in prenatal diagnosis.
Schonberg SA
West J Med 1993 Sep;159(3):360-5. PMID: 8236978Free PMC Article

Recent clinical studies

Etiology

Meiotic nondisjunction and sperm aneuploidy in humans.
Ioannou D, Fortun J, Tempest HG
Reproduction 2019 Jan;157(1):R15-R31. doi: 10.1530/REP-18-0318. PMID: 30390610
Sex chromosome aneuploidies.
Skuse D, Printzlau F, Wolstencroft J
Handb Clin Neurol 2018;147:355-376. doi: 10.1016/B978-0-444-63233-3.00024-5. PMID: 29325624
Risk factors for Down syndrome.
Coppedè F
Arch Toxicol 2016 Dec;90(12):2917-2929. Epub 2016 Sep 7 doi: 10.1007/s00204-016-1843-3. PMID: 27600794
A review of trisomy X (47,XXX).
Tartaglia NR, Howell S, Sutherland A, Wilson R, Wilson L
Orphanet J Rare Dis 2010 May 11;5:8. doi: 10.1186/1750-1172-5-8. PMID: 20459843Free PMC Article
To err (meiotically) is human: the genesis of human aneuploidy.
Hassold T, Hunt P
Nat Rev Genet 2001 Apr;2(4):280-91. doi: 10.1038/35066065. PMID: 11283700

Diagnosis

Telomere dynamics and reproduction.
Robinson LG Jr, Kalmbach K, Sumerfield O, Nomani W, Wang F, Liu L, Keefe DL
Fertil Steril 2024 Jan;121(1):4-11. Epub 2023 Nov 21 doi: 10.1016/j.fertnstert.2023.11.012. PMID: 37993053
Sex chromosome aneuploidies.
Skuse D, Printzlau F, Wolstencroft J
Handb Clin Neurol 2018;147:355-376. doi: 10.1016/B978-0-444-63233-3.00024-5. PMID: 29325624
Mosaicism for trisomy 21: a review.
Papavassiliou P, Charalsawadi C, Rafferty K, Jackson-Cook C
Am J Med Genet A 2015 Jan;167A(1):26-39. Epub 2014 Nov 20 doi: 10.1002/ajmg.a.36861. PMID: 25412855
Trisomy 18: review of the clinical, etiologic, prognostic, and ethical aspects.
Rosa RF, Rosa RC, Zen PR, Graziadio C, Paskulin GA
Rev Paul Pediatr 2013 Jan-Mar;31(1):111-20. doi: 10.1590/s0103-05822013000100018. PMID: 23703053
A review of trisomy X (47,XXX).
Tartaglia NR, Howell S, Sutherland A, Wilson R, Wilson L
Orphanet J Rare Dis 2010 May 11;5:8. doi: 10.1186/1750-1172-5-8. PMID: 20459843Free PMC Article

Therapy

Sex chromosome aneuploidies.
Skuse D, Printzlau F, Wolstencroft J
Handb Clin Neurol 2018;147:355-376. doi: 10.1016/B978-0-444-63233-3.00024-5. PMID: 29325624
Risk factors for Down syndrome.
Coppedè F
Arch Toxicol 2016 Dec;90(12):2917-2929. Epub 2016 Sep 7 doi: 10.1007/s00204-016-1843-3. PMID: 27600794
Indirect mechanisms of genotoxicity.
Kirsch-Volders M, Vanhauwaert A, Eichenlaub-Ritter U, Decordier I
Toxicol Lett 2003 Apr 11;140-141:63-74. doi: 10.1016/s0378-4274(02)00498-8. PMID: 12676452
To err (meiotically) is human: the genesis of human aneuploidy.
Hassold T, Hunt P
Nat Rev Genet 2001 Apr;2(4):280-91. doi: 10.1038/35066065. PMID: 11283700
Paternal contributions to birth defects.
Cohen FL
Nurs Clin North Am 1986 Mar;21(1):49-64. PMID: 2937020

Prognosis

Trisomy 18: review of the clinical, etiologic, prognostic, and ethical aspects.
Rosa RF, Rosa RC, Zen PR, Graziadio C, Paskulin GA
Rev Paul Pediatr 2013 Jan-Mar;31(1):111-20. doi: 10.1590/s0103-05822013000100018. PMID: 23703053
A review of trisomy X (47,XXX).
Tartaglia NR, Howell S, Sutherland A, Wilson R, Wilson L
Orphanet J Rare Dis 2010 May 11;5:8. doi: 10.1186/1750-1172-5-8. PMID: 20459843Free PMC Article
Assessment and care of the newborn with Down syndrome.
Ranweiler R
Adv Neonatal Care 2009 Feb;9(1):17-24; Quiz 25-6. doi: 10.1097/01.ANC.0000346090.05240.ab. PMID: 19212160
The in vitro micronucleus technique.
Fenech M
Mutat Res 2000 Nov 20;455(1-2):81-95. doi: 10.1016/s0027-5107(00)00065-8. PMID: 11113469
Etiology of nondisjunction in humans.
Abruzzo MA, Hassold TJ
Environ Mol Mutagen 1995;25 Suppl 26:38-47. doi: 10.1002/em.2850250608. PMID: 7789361

Clinical prediction guides

Telomere dynamics and reproduction.
Robinson LG Jr, Kalmbach K, Sumerfield O, Nomani W, Wang F, Liu L, Keefe DL
Fertil Steril 2024 Jan;121(1):4-11. Epub 2023 Nov 21 doi: 10.1016/j.fertnstert.2023.11.012. PMID: 37993053
A cancer-associated, genome protective programme engaging PKCε.
Parker PJ, Lockwood N, Davis K, Kelly JR, Soliman TN, Pardo AL, Marshall JJT, Redmond JM, Vitale M, Silvia Martini
Adv Biol Regul 2020 Dec;78:100759. Epub 2020 Oct 7 doi: 10.1016/j.jbior.2020.100759. PMID: 33039823Free PMC Article
Mosaicism for trisomy 21: a review.
Papavassiliou P, Charalsawadi C, Rafferty K, Jackson-Cook C
Am J Med Genet A 2015 Jan;167A(1):26-39. Epub 2014 Nov 20 doi: 10.1002/ajmg.a.36861. PMID: 25412855
Trisomy 18: review of the clinical, etiologic, prognostic, and ethical aspects.
Rosa RF, Rosa RC, Zen PR, Graziadio C, Paskulin GA
Rev Paul Pediatr 2013 Jan-Mar;31(1):111-20. doi: 10.1590/s0103-05822013000100018. PMID: 23703053
Recombination and nondisjunction in humans and flies.
Koehler KE, Hawley RS, Sherman S, Hassold T
Hum Mol Genet 1996;5 Spec No:1495-504. doi: 10.1093/hmg/5.supplement_1.1495. PMID: 8875256

Recent systematic reviews

Maternal germline factors associated with aneuploid pregnancy loss: a systematic review.
Blyth U, Craciunas L, Hudson G, Choudhary M
Hum Reprod Update 2021 Aug 20;27(5):866-884. doi: 10.1093/humupd/dmab010. PMID: 33969392

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