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Y chromosome number anomaly

MedGen UID:
1825955
•Concept ID:
C4736189
•
Cell or Molecular Dysfunction
Orphanet: ORPHA263746

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVY chromosome number anomaly

Professional guidelines

PubMed

New Insights beyond Established Norms: A Scoping Review of Genetic Testing for Infertile Men.
Kalantari H, Sabbaghian M, Vogiatzi P, Colpi GM, Sadighi Gilani MA
Urol J 2024 Jun 9;21(4):200-207. doi: 10.22037/uj.v20i.8008. PMID: 38716610
Whole-Exome Sequencing for Diagnosis of Turner Syndrome: Toward Next-Generation Sequencing and Newborn Screening.
Murdock DR, Donovan FX, Chandrasekharappa SC, Banks N, Bondy C, Muenke M, Kruszka P
J Clin Endocrinol Metab 2017 May 1;102(5):1529-1537. doi: 10.1210/jc.2016-3414. PMID: 28324009Free PMC Article
Clinical review 100: Evaluation and treatment of the infertile couple.
Forti G, Krausz C
J Clin Endocrinol Metab 1998 Dec;83(12):4177-88. doi: 10.1210/jcem.83.12.5296. PMID: 9851748

Recent clinical studies

Etiology

A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships.
Houston BJ, Riera-Escamilla A, Wyrwoll MJ, Salas-Huetos A, Xavier MJ, Nagirnaja L, Friedrich C, Conrad DF, Aston KI, Krausz C, Tüttelmann F, O'Bryan MK, Veltman JA, Oud MS
Hum Reprod Update 2021 Dec 21;28(1):15-29. doi: 10.1093/humupd/dmab030. PMID: 34498060Free PMC Article
Evaluation of Y chromosome microdeletions and chromosomal anomalies in infertile men.
Oz O
Horm Mol Biol Clin Investig 2021 Mar 8;42(3):279-283. doi: 10.1515/hmbci-2021-0003. PMID: 33675197
Autoimmunity and Turner's syndrome.
Lleo A, Moroni L, Caliari L, Invernizzi P
Autoimmun Rev 2012 May;11(6-7):A538-43. Epub 2011 Dec 2 doi: 10.1016/j.autrev.2011.11.015. PMID: 22154619
Chromosomal variants in klinefelter syndrome.
Frühmesser A, Kotzot D
Sex Dev 2011;5(3):109-23. Epub 2011 Apr 29 doi: 10.1159/000327324. PMID: 21540567
Cytogenetics of infertile men.
Van Assche E, Bonduelle M, Tournaye H, Joris H, Verheyen G, Devroey P, Van Steirteghem A, Liebaers I
Hum Reprod 1996 Dec;11 Suppl 4:1-24; discussion 25-6. doi: 10.1093/humrep/11.suppl_4.1. PMID: 9147109

Diagnosis

A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships.
Houston BJ, Riera-Escamilla A, Wyrwoll MJ, Salas-Huetos A, Xavier MJ, Nagirnaja L, Friedrich C, Conrad DF, Aston KI, Krausz C, Tüttelmann F, O'Bryan MK, Veltman JA, Oud MS
Hum Reprod Update 2021 Dec 21;28(1):15-29. doi: 10.1093/humupd/dmab030. PMID: 34498060Free PMC Article
Evaluation of Y chromosome microdeletions and chromosomal anomalies in infertile men.
Oz O
Horm Mol Biol Clin Investig 2021 Mar 8;42(3):279-283. doi: 10.1515/hmbci-2021-0003. PMID: 33675197
Autoimmunity and Turner's syndrome.
Lleo A, Moroni L, Caliari L, Invernizzi P
Autoimmun Rev 2012 May;11(6-7):A538-43. Epub 2011 Dec 2 doi: 10.1016/j.autrev.2011.11.015. PMID: 22154619
Chromosomal variants in klinefelter syndrome.
Frühmesser A, Kotzot D
Sex Dev 2011;5(3):109-23. Epub 2011 Apr 29 doi: 10.1159/000327324. PMID: 21540567
Y chromosome and male infertility: update, 2006.
Krausz C, Degl'Innocenti S
Front Biosci 2006 Sep 1;11:3049-61. doi: 10.2741/2032. PMID: 16720375

Therapy

Minimally invasive preimplantation genetic testing using blastocyst culture medium.
Jiao J, Shi B, Sagnelli M, Yang D, Yao Y, Li W, Shao L, Lu S, Li D, Wang X
Hum Reprod 2019 Jul 8;34(7):1369-1379. doi: 10.1093/humrep/dez075. PMID: 31251795
Low prevalence of male microchimerism in women with Mayer-Rokitansky-Küster-Hauser syndrome.
Peters HE, Johnson BN, Ehli EA, Micha D, Verhoeven MO, Davies GE, Dekker JJML, Overbeek A, Berg MHVD, Dulmen-den Broeder EV, Leeuwen FEV, Mijatovic V, Boomsma DI, Lambalk CB
Hum Reprod 2019 Jun 4;34(6):1117-1125. doi: 10.1093/humrep/dez044. PMID: 31111890Free PMC Article
To compare aneuploidy rates between ICSI and IVF Cases.
Sahin L, Bozkurt M, Şahin H, Gürel A, Calıskan E
Niger J Clin Pract 2017 Jun;20(6):652-658. doi: 10.4103/1119-3077.208959. PMID: 28656917
Evidence for feasibility of fetal trophoblastic cell-based noninvasive prenatal testing.
Breman AM, Chow JC, U'Ren L, Normand EA, Qdaisat S, Zhao L, Henke DM, Chen R, Shaw CA, Jackson L, Yang Y, Vossaert L, Needham RH, Chang EJ, Campton D, Werbin JL, Seubert RC, Van den Veyver IB, Stilwell JL, Kaldjian EP, Beaudet AL
Prenat Diagn 2016 Nov;36(11):1009-1019. Epub 2016 Oct 2 doi: 10.1002/pd.4924. PMID: 27616633Free PMC Article
Mutational landscape of the human Y chromosome-linked genes and loci in patients with hypogonadism.
Pathak D, Yadav SK, Rawal L, Ali S
J Genet 2015 Dec;94(4):677-87. doi: 10.1007/s12041-015-0582-1. PMID: 26690523

Prognosis

Clinical, cytogenomic, and molecular characterization of isodicentric Y-chromosome and prediction of testicular sperm retrieval outcomes in azoospermic and severe oligozoospermic infertile men.
Abur U, Gunes S, Hekim N, Akar OS, Altundag E, Asci R
J Assist Reprod Genet 2022 Dec;39(12):2799-2810. Epub 2022 Oct 17 doi: 10.1007/s10815-022-02632-8. PMID: 36251127Free PMC Article
Sex chromosome changes in leukemia: cytogenetics and molecular aspects.
Shahrabi S, Khodadi E, Saba F, Shahjahani M, Saki N
Hematology 2018 Apr;23(3):139-147. Epub 2017 Sep 10 doi: 10.1080/10245332.2017.1375063. PMID: 28889783
Incidence of X and Y Chromosomal Aneuploidy in a Large Child Bearing Population.
Samango-Sprouse C, Kırkızlar E, Hall MP, Lawson P, Demko Z, Zneimer SM, Curnow KJ, Gross S, Gropman A
PLoS One 2016;11(8):e0161045. Epub 2016 Aug 11 doi: 10.1371/journal.pone.0161045. PMID: 27512996Free PMC Article
Copy number variation in Y chromosome multicopy genes is linked to a paternal parent-of-origin effect on CNS autoimmune disease in female offspring.
Case LK, Wall EH, Osmanski EE, Dragon JA, Saligrama N, Zachary JF, Lemos B, Blankenhorn EP, Teuscher C
Genome Biol 2015 Feb 10;16(1):28. doi: 10.1186/s13059-015-0591-7. PMID: 25886764Free PMC Article
Y chromosome and male infertility: update, 2006.
Krausz C, Degl'Innocenti S
Front Biosci 2006 Sep 1;11:3049-61. doi: 10.2741/2032. PMID: 16720375

Clinical prediction guides

Clinical, cytogenomic, and molecular characterization of isodicentric Y-chromosome and prediction of testicular sperm retrieval outcomes in azoospermic and severe oligozoospermic infertile men.
Abur U, Gunes S, Hekim N, Akar OS, Altundag E, Asci R
J Assist Reprod Genet 2022 Dec;39(12):2799-2810. Epub 2022 Oct 17 doi: 10.1007/s10815-022-02632-8. PMID: 36251127Free PMC Article
A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships.
Houston BJ, Riera-Escamilla A, Wyrwoll MJ, Salas-Huetos A, Xavier MJ, Nagirnaja L, Friedrich C, Conrad DF, Aston KI, Krausz C, Tüttelmann F, O'Bryan MK, Veltman JA, Oud MS
Hum Reprod Update 2021 Dec 21;28(1):15-29. doi: 10.1093/humupd/dmab030. PMID: 34498060Free PMC Article
Evaluation of Y chromosome microdeletions and chromosomal anomalies in infertile men.
Oz O
Horm Mol Biol Clin Investig 2021 Mar 8;42(3):279-283. doi: 10.1515/hmbci-2021-0003. PMID: 33675197
Sex chromosome changes in leukemia: cytogenetics and molecular aspects.
Shahrabi S, Khodadi E, Saba F, Shahjahani M, Saki N
Hematology 2018 Apr;23(3):139-147. Epub 2017 Sep 10 doi: 10.1080/10245332.2017.1375063. PMID: 28889783
Chromosomal variants in klinefelter syndrome.
Frühmesser A, Kotzot D
Sex Dev 2011;5(3):109-23. Epub 2011 Apr 29 doi: 10.1159/000327324. PMID: 21540567

Recent systematic reviews

A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships.
Houston BJ, Riera-Escamilla A, Wyrwoll MJ, Salas-Huetos A, Xavier MJ, Nagirnaja L, Friedrich C, Conrad DF, Aston KI, Krausz C, Tüttelmann F, O'Bryan MK, Veltman JA, Oud MS
Hum Reprod Update 2021 Dec 21;28(1):15-29. doi: 10.1093/humupd/dmab030. PMID: 34498060Free PMC Article

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