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Mosaicism

MedGen UID:
452472
•Concept ID:
C0392053
•
Cell or Molecular Dysfunction
SNOMED CT: Mosaicism (8855009)

Definition

The presence of more than one genetically distinct cell line in germ and/or somatic cells. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMosaicism

Professional guidelines

PubMed

Preimplantation Genetic Testing: Where We Are Today.
Greco E, Litwicka K, Minasi MG, Cursio E, Greco PF, Barillari P
Int J Mol Sci 2020 Jun 19;21(12) doi: 10.3390/ijms21124381. PMID: 32575575Free PMC Article
Preimplantation Genetic Testing for Chromosomal Abnormalities: Aneuploidy, Mosaicism, and Structural Rearrangements.
Viotti M
Genes (Basel) 2020 May 29;11(6) doi: 10.3390/genes11060602. PMID: 32485954Free PMC Article
The Clinical Spectrum of McCune-Albright Syndrome and Its Management.
Spencer T, Pan KS, Collins MT, Boyce AM
Horm Res Paediatr 2019;92(6):347-356. Epub 2019 Dec 19 doi: 10.1159/000504802. PMID: 31865341Free PMC Article

Recent clinical studies

Etiology

Clonal hematopoiesis, somatic mosaicism, and age-associated disease.
Evans MA, Walsh K
Physiol Rev 2023 Jan 1;103(1):649-716. Epub 2022 Sep 1 doi: 10.1152/physrev.00004.2022. PMID: 36049115Free PMC Article
PGDIS position statement on the transfer of mosaic embryos 2021.
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
The "mosaic" embryo: misconceptions and misinterpretations in preimplantation genetic testing for aneuploidy.
Treff NR, Marin D
Fertil Steril 2021 Nov;116(5):1205-1211. Epub 2021 Jul 23 doi: 10.1016/j.fertnstert.2021.06.027. PMID: 34304887
Autoimmunity in Segmental Vitiligo.
Speeckaert R, Lambert J, Bulat V, Belpaire A, Speeckaert M, van Geel N
Front Immunol 2020;11:568447. Epub 2020 Oct 27 doi: 10.3389/fimmu.2020.568447. PMID: 33193342Free PMC Article
Chromosomal mosaicism in human blastocysts: the ultimate diagnostic dilemma.
Popovic M, Dhaenens L, Boel A, Menten B, Heindryckx B
Hum Reprod Update 2020 Apr 15;26(3):313-334. doi: 10.1093/humupd/dmz050. PMID: 32141501

Diagnosis

The "mosaic" embryo: misconceptions and misinterpretations in preimplantation genetic testing for aneuploidy.
Treff NR, Marin D
Fertil Steril 2021 Nov;116(5):1205-1211. Epub 2021 Jul 23 doi: 10.1016/j.fertnstert.2021.06.027. PMID: 34304887
Confined placental mosaicism and the association with pregnancy outcome and fetal growth: a review of the literature.
Eggenhuizen GM, Go A, Koster MPH, Baart EB, Galjaard RJ
Hum Reprod Update 2021 Aug 20;27(5):885-903. doi: 10.1093/humupd/dmab009. PMID: 33984128Free PMC Article
Trisomy 13 mosaicism.
Cammarata-Scalisi F, Araque D, Ramírez R, Guaran L, Silva GD
Bol Med Hosp Infant Mex 2019;76(5):246-250. doi: 10.24875/BMHIM.19000003. PMID: 31536039
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
Mosaicism and clinical genetics.
Spinner NB, Conlin LK
Am J Med Genet C Semin Med Genet 2014 Dec;166C(4):397-405. Epub 2014 Nov 25 doi: 10.1002/ajmg.c.31421. PMID: 25424979

Therapy

Mosaic human preimplantation embryos and their developmental potential in a prospective, non-selection clinical trial.
Capalbo A, Poli M, Rienzi L, Girardi L, Patassini C, Fabiani M, Cimadomo D, Benini F, Farcomeni A, Cuzzi J, Rubio C, Albani E, Sacchi L, Vaiarelli A, Figliuzzi M, Findikli N, Coban O, Boynukalin FK, Vogel I, Hoffmann E, Livi C, Levi-Setti PE, Ubaldi FM, Simón C
Am J Hum Genet 2021 Dec 2;108(12):2238-2247. Epub 2021 Nov 18 doi: 10.1016/j.ajhg.2021.11.002. PMID: 34798051Free PMC Article
The "mosaic" embryo: misconceptions and misinterpretations in preimplantation genetic testing for aneuploidy.
Treff NR, Marin D
Fertil Steril 2021 Nov;116(5):1205-1211. Epub 2021 Jul 23 doi: 10.1016/j.fertnstert.2021.06.027. PMID: 34304887
PCDH19-Related Epilepsy Syndrome: A Comprehensive Clinical Review.
Samanta D
Pediatr Neurol 2020 Apr;105:3-9. Epub 2019 Nov 30 doi: 10.1016/j.pediatrneurol.2019.10.009. PMID: 32057594
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

Prognosis

CRISPR/Cas gene editing in the human germline.
Bekaert B, Boel A, Cosemans G, De Witte L, Menten B, Heindryckx B
Semin Cell Dev Biol 2022 Nov;131:93-107. Epub 2022 Mar 16 doi: 10.1016/j.semcdb.2022.03.012. PMID: 35305903
Mosaic human preimplantation embryos and their developmental potential in a prospective, non-selection clinical trial.
Capalbo A, Poli M, Rienzi L, Girardi L, Patassini C, Fabiani M, Cimadomo D, Benini F, Farcomeni A, Cuzzi J, Rubio C, Albani E, Sacchi L, Vaiarelli A, Figliuzzi M, Findikli N, Coban O, Boynukalin FK, Vogel I, Hoffmann E, Livi C, Levi-Setti PE, Ubaldi FM, Simón C
Am J Hum Genet 2021 Dec 2;108(12):2238-2247. Epub 2021 Nov 18 doi: 10.1016/j.ajhg.2021.11.002. PMID: 34798051Free PMC Article
The "mosaic" embryo: misconceptions and misinterpretations in preimplantation genetic testing for aneuploidy.
Treff NR, Marin D
Fertil Steril 2021 Nov;116(5):1205-1211. Epub 2021 Jul 23 doi: 10.1016/j.fertnstert.2021.06.027. PMID: 34304887
Non-invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146,958 pregnancies.
Zhang H, Gao Y, Jiang F, Fu M, Yuan Y, Guo Y, Zhu Z, Lin M, Liu Q, Tian Z, Zhang H, Chen F, Lau TK, Zhao L, Yi X, Yin Y, Wang W
Ultrasound Obstet Gynecol 2015 May;45(5):530-8. Epub 2015 Apr 8 doi: 10.1002/uog.14792. PMID: 25598039
Pallister-Killian syndrome.
Izumi K, Krantz ID
Am J Med Genet C Semin Med Genet 2014 Dec;166C(4):406-13. Epub 2014 Nov 25 doi: 10.1002/ajmg.c.31423. PMID: 25425112

Clinical prediction guides

On the reproductive capabilities of aneuploid human preimplantation embryos.
Capalbo A, Poli M, Jalas C, Forman EJ, Treff NR
Am J Hum Genet 2022 Sep 1;109(9):1572-1581. doi: 10.1016/j.ajhg.2022.07.009. PMID: 36055209Free PMC Article
The "mosaic" embryo: misconceptions and misinterpretations in preimplantation genetic testing for aneuploidy.
Treff NR, Marin D
Fertil Steril 2021 Nov;116(5):1205-1211. Epub 2021 Jul 23 doi: 10.1016/j.fertnstert.2021.06.027. PMID: 34304887
Chromosomal mosaicism in human blastocysts: the ultimate diagnostic dilemma.
Popovic M, Dhaenens L, Boel A, Menten B, Heindryckx B
Hum Reprod Update 2020 Apr 15;26(3):313-334. doi: 10.1093/humupd/dmz050. PMID: 32141501
Discordant non-invasive prenatal testing (NIPT) - a systematic review.
Hartwig TS, Ambye L, Sørensen S, Jørgensen FS
Prenat Diagn 2017 Jun;37(6):527-539. Epub 2017 Jun 1 doi: 10.1002/pd.5049. PMID: 28382695
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

Recent systematic reviews

CTBP1 and CTBP2 mutations underpinning neurological disorders: a systematic review.
Acosta-Baena N, Tejada-Moreno JA, Arcos-Burgos M, Villegas-Lanau CA
Neurogenetics 2022 Oct;23(4):231-240. Epub 2022 Nov 4 doi: 10.1007/s10048-022-00700-w. PMID: 36331689Free PMC Article
The Pregnancy Outcome of Mosaic Embryo Transfer: A Prospective Multicenter Study and Meta-Analysis.
Zhang YX, Chen JJ, Nabu S, Yeung QSY, Li Y, Tan JH, Suksalak W, Chanchamroen S, Quangkananurug W, Wong PS, Chung JPW, Choy KW
Genes (Basel) 2020 Aug 21;11(9) doi: 10.3390/genes11090973. PMID: 32825792Free PMC Article
Mosaicism in Patients With Colorectal Cancer or Polyposis Syndromes: A Systematic Review.
Jansen AML, Goel A
Clin Gastroenterol Hepatol 2020 Aug;18(9):1949-1960. Epub 2020 Mar 5 doi: 10.1016/j.cgh.2020.02.049. PMID: 32147591Free PMC Article
Causes of aberrant non-invasive prenatal testing for aneuploidy: A systematic review.
Samura O, Okamoto A
Taiwan J Obstet Gynecol 2020 Jan;59(1):16-20. doi: 10.1016/j.tjog.2019.11.003. PMID: 32039788
Discordant non-invasive prenatal testing (NIPT) - a systematic review.
Hartwig TS, Ambye L, Sørensen S, Jørgensen FS
Prenat Diagn 2017 Jun;37(6):527-539. Epub 2017 Jun 1 doi: 10.1002/pd.5049. PMID: 28382695

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