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Abnormal female meiosis

MedGen UID:
1779410
•Concept ID:
C5539525
•
Cell or Molecular Dysfunction
HPO: HP:0033338

Definition

Anomalous oocyte meiosis [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
Counseling parents before prenatal diagnosis: do we need to say more about the sex chromosome aneuploidies?
Lalatta F, Tint GS
Am J Med Genet A 2013 Nov;161A(11):2873-9. Epub 2013 Sep 24 doi: 10.1002/ajmg.a.36226. PMID: 24115600

Recent clinical studies

Etiology

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
Mechanisms of oocyte aneuploidy associated with advanced maternal age.
Mikwar M, MacFarlane AJ, Marchetti F
Mutat Res Rev Mutat Res 2020 Jul-Sep;785:108320. Epub 2020 Jul 4 doi: 10.1016/j.mrrev.2020.108320. PMID: 32800274
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
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

Large-scale analysis of de novo mutations identifies risk genes for female infertility characterized by oocyte and early embryo defects.
Li Q, Zhao L, Zeng Y, Kuang Y, Guan Y, Chen B, Xu S, Tang B, Wu L, Mao X, Sun X, Shi J, Xu P, Diao F, Xue S, Bao S, Meng Q, Yuan P, Wang W, Ma N, Song D, Xu B, Dong J, Mu J, Zhang Z, Fan H, Gu H, Li Q, He L, Jin L, Wang L, Sang Q
Genome Biol 2023 Apr 6;24(1):68. doi: 10.1186/s13059-023-02894-0. PMID: 37024973Free PMC Article
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
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
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
The biology of infertility: research advances and clinical challenges.
Matzuk MM, Lamb DJ
Nat Med 2008 Nov;14(11):1197-213. Epub 2008 Nov 6 doi: 10.1038/nm.f.1895. PMID: 18989307Free 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
The ICSI procedure from past to future: a systematic review of the more controversial aspects.
Rubino P, Viganò P, Luddi A, Piomboni P
Hum Reprod Update 2016 Mar-Apr;22(2):194-227. Epub 2015 Nov 18 doi: 10.1093/humupd/dmv050. PMID: 26586241
Chromosome abnormalities in the human oocyte.
Fragouli E, Wells D, Delhanty JD
Cytogenet Genome Res 2011;133(2-4):107-18. Epub 2011 Jan 28 doi: 10.1159/000323801. PMID: 21273765
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
Trisomy in man.
Hassold TJ, Jacobs PA
Annu Rev Genet 1984;18:69-97. doi: 10.1146/annurev.ge.18.120184.000441. PMID: 6241455

Prognosis

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
Oocyte quality in assisted reproduction techniques.
Chamayou S
Minerva Endocrinol (Torino) 2022 Mar;47(1):89-98. doi: 10.23736/S2724-6507.21.03507-7. PMID: 35420005
Plasma microRNAs can be a potential diagnostic biomarker for endometriosis.
Zhuo Z, Wang C, Yu H
Ginekol Pol 2022;93(6):450-459. Epub 2021 Jun 22 doi: 10.5603/GP.a2021.0127. PMID: 34155616
Monogenic causes of non-obstructive azoospermia: challenges, established knowledge, limitations and perspectives.
Kasak L, Laan M
Hum Genet 2021 Jan;140(1):135-154. Epub 2020 Jan 18 doi: 10.1007/s00439-020-02112-y. PMID: 31955275
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

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
Oocyte quality in assisted reproduction techniques.
Chamayou S
Minerva Endocrinol (Torino) 2022 Mar;47(1):89-98. doi: 10.23736/S2724-6507.21.03507-7. PMID: 35420005
Dynamics and clinical relevance of maternal mRNA clearance during the oocyte-to-embryo transition in humans.
Sha QQ, Zheng W, Wu YW, Li S, Guo L, Zhang S, Lin G, Ou XH, Fan HY
Nat Commun 2020 Oct 1;11(1):4917. doi: 10.1038/s41467-020-18680-6. PMID: 33004802Free PMC Article
Molecular origin of female meiotic aneuploidies.
Handyside AH
Biochim Biophys Acta 2012 Dec;1822(12):1913-20. Epub 2012 Jul 27 doi: 10.1016/j.bbadis.2012.07.007. PMID: 22841925
Assisted reproduction treatment and epigenetic inheritance.
van Montfoort AP, Hanssen LL, de Sutter P, Viville S, Geraedts JP, de Boer P
Hum Reprod Update 2012 Mar-Apr;18(2):171-97. Epub 2012 Jan 19 doi: 10.1093/humupd/dmr047. PMID: 22267841Free PMC Article

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
The ICSI procedure from past to future: a systematic review of the more controversial aspects.
Rubino P, Viganò P, Luddi A, Piomboni P
Hum Reprod Update 2016 Mar-Apr;22(2):194-227. Epub 2015 Nov 18 doi: 10.1093/humupd/dmv050. PMID: 26586241
Small Supernumerary Marker Chromosomes in Human Infertility.
Armanet N, Tosca L, Brisset S, Liehr T, Tachdjian G
Cytogenet Genome Res 2015;146(2):100-8. Epub 2015 Aug 14 doi: 10.1159/000438718. PMID: 26398339

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