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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

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
Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis.
Conlin LK, Thiel BD, Bonnemann CG, Medne L, Ernst LM, Zackai EH, Deardorff MA, Krantz ID, Hakonarson H, Spinner NB
Hum Mol Genet 2010 Apr 1;19(7):1263-75. Epub 2010 Jan 6 doi: 10.1093/hmg/ddq003. PMID: 20053666Free 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
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
Radiation-induced nondisjunction.
Uchida IA
Environ Health Perspect 1979 Aug;31:13-17. doi: 10.1289/ehp.793113. PMID: 499121Free PMC Article

Prognosis

Mathematical modeling of human oocyte aneuploidy.
Tyc KM, McCoy RC, Schindler K, Xing J
Proc Natl Acad Sci U S A 2020 May 12;117(19):10455-10464. Epub 2020 Apr 29 doi: 10.1073/pnas.1912853117. PMID: 32350135Free PMC Article
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
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
41,XX(Y) * male mice: An animal model for Klinefelter syndrome.
Wistuba J, Beumer C, Brehm R, Gromoll J
Am J Med Genet C Semin Med Genet 2020 Jun;184(2):267-278. Epub 2020 May 20 doi: 10.1002/ajmg.c.31796. PMID: 32432406
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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