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Abnormal meiosis

MedGen UID:
1615877
•Concept ID:
C4531070
•
Cell or Molecular Dysfunction
HPO: HP:0031515

Definition

Any anomaly of meiosis, a type of cell division that reduces the number of chromosomes in the parent cell by half and produces four gamete cells. [from HPO]

Professional guidelines

PubMed

Progress and Challenges in Laboratory-Based Diagnostic and Screening Approaches for Aneuploidy Detection during Pregnancy.
Schneider L, Tripathi A
SLAS Technol 2021 Oct;26(5):425-440. Epub 2021 Jun 19 doi: 10.1177/24726303211021787. PMID: 34148381
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
Low utilization of prenatal and pre-implantation genetic diagnosis in Huntington disease - risk discounting in preventive genetics.
Schulman JD, Stern HJ
Clin Genet 2015 Sep;88(3):220-3. Epub 2014 Nov 8 doi: 10.1111/cge.12523. PMID: 25307798

Recent clinical studies

Etiology

Comparison of sperm morphology and nuclear sperm quality in SPATA16- and DPY19L2-mutated globozoospermic patients.
Ghédir H, Braham A, Viville S, Saad A, Ibala-Romdhane S
Andrologia 2019 Jul;51(6):e13277. Epub 2019 Mar 26 doi: 10.1111/and.13277. PMID: 30912172
Reconstitution of gametogenesis in vitro: meiosis is the biggest obstacle.
Sun YC, Cheng SF, Sun R, Zhao Y, Shen W
J Genet Genomics 2014 Mar 20;41(3):87-95. Epub 2014 Feb 22 doi: 10.1016/j.jgg.2013.12.008. PMID: 24656229

Diagnosis

A practical approach to ambiguous genitalia in the newborn period.
Lambert SM, Vilain EJ, Kolon TF
Urol Clin North Am 2010 May;37(2):195-205. doi: 10.1016/j.ucl.2010.03.014. PMID: 20569798

Therapy

Premature ovarian insufficiency: a review on the role of oxidative stress and the application of antioxidants.
Shi YQ, Zhu XT, Zhang SN, Ma YF, Han YH, Jiang Y, Zhang YH
Front Endocrinol (Lausanne) 2023;14:1172481. Epub 2023 Aug 1 doi: 10.3389/fendo.2023.1172481. PMID: 37600717Free PMC Article

Clinical prediction guides

Comparison of sperm morphology and nuclear sperm quality in SPATA16- and DPY19L2-mutated globozoospermic patients.
Ghédir H, Braham A, Viville S, Saad A, Ibala-Romdhane S
Andrologia 2019 Jul;51(6):e13277. Epub 2019 Mar 26 doi: 10.1111/and.13277. PMID: 30912172
Semi-automated scoring of triple-probe FISH in human sperm using confocal microscopy.
Branch F, Nguyen G, Porter N, Young HA, Martenies SE, McCray N, Deloid G, Popratiloff A, Perry MJ
Cytometry A 2017 Sep;91(9):859-866. Epub 2017 Jul 5 doi: 10.1002/cyto.a.23126. PMID: 28678425
Ex vivo culture of human fetal gonads: manipulation of meiosis signalling by retinoic acid treatment disrupts testis development.
Jørgensen A, Nielsen JE, Perlman S, Lundvall L, Mitchell RT, Juul A, Rajpert-De Meyts E
Hum Reprod 2015 Oct;30(10):2351-63. Epub 2015 Aug 6 doi: 10.1093/humrep/dev194. PMID: 26251460Free PMC Article
The cloning of Dmc1 cDNAs and a comparative study of its expression in different ploidy cyprinid fishes.
Tao M, Liu S, Long Y, Zeng C, Liu J, Liu L, Zhang C, Duan W, Liu Y
Sci China C Life Sci 2008 Jan;51(1):38-46. doi: 10.1007/s11427-008-0004-1. PMID: 18176789

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