Sex chromosome DSD individuals with mosaic 45,X0 and aberrant Y chromosomes in 46,XY cells: distinct gender phenotypes and germ cell tumour risks

Chromosome Breakage Chromosomes, Human, Y / metabolism DEAD-box RNA Helicases / genetics Female Gonadoblastoma / genetics Humans Male Minor Histocompatibility Antigens Neoplasms, Germ Cell and Embryonal Ovarian Neoplasms / genetics Phenotype Sex Chromosome Disorders of Sex Development
45X/46XY mosaic DSD Germ cell tumour risk OCT3/4 expression GBY expression di-centric Y chromosome

Journal

Systems biology in reproductive medicine
ISSN: 1939-6376
Titre abrégé: Syst Biol Reprod Med
Pays: England
ID NLM: 101464963

Informations de publication

Date de publication:
Aug 2022
Historique:
pubmed: 29 4 2022
medline: 22 6 2022
entrez: 28 4 2022
Statut: ppublish

Résumé

"

Identifiants

DOI: 10.1080/19396368.2022.2057258 PMID: 35481403 PMC: PMC10284372
pubmed: 35481403
doi: 10.1080/19396368.2022.2057258
pmc: PMC10284372
mid: NIHMS1900345
doi:

Substances chimiques

Minor Histocompatibility Antigens 0
DDX3Y protein, human EC 3.6.1.-
DEAD-box RNA Helicases EC 3.6.4.13

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

247-257

Subventions

Organisme : BLRD VA
ID : I01 BX004446
Pays : United States
Organisme : BLRD VA
ID : IK6 BX004854
Pays : United States

Références

Mol Cell Endocrinol. 2018 Jun 15;468:3-10
pubmed: 29635012
J Pathol. 2008 May;215(1):31-8
pubmed: 18348162
J Clin Endocrinol Metab. 2000 Sep;85(9):3199-202
pubmed: 10999808
J Clin Endocrinol Metab. 2010 Dec;95(12):5357-64
pubmed: 20843948
Sex Dev. 2018;12(5):211-217
pubmed: 30007989
J Pathol. 2004 Jul;203(3):849-57
pubmed: 15221945
Nature. 2005 Mar 17;434(7031):325-37
pubmed: 15772651
J Clin Endocrinol Metab. 2011 Jul;96(7):E1171-80
pubmed: 21508138
Lancet. 1959 Apr 4;1(7075):711-3
pubmed: 13642858
Hum Genet. 2017 May;136(5):637-655
pubmed: 28456834
J Pathol. 2007 Jan;211(1):1-9
pubmed: 17117392
J Clin Endocrinol Metab. 2012 Aug;97(8):E1540-9
pubmed: 22605431
J Pediatr Urol. 2006 Jun;2(3):148-62
pubmed: 18947601
Methods Mol Biol. 2013;927:187-204
pubmed: 22992914
Am J Med. 1964 Feb;36:281-92
pubmed: 14124695
Nature. 1959 Jan 31;183(4657):302-3
pubmed: 13632697
Semin Diagn Pathol. 2014 Sep;31(5):427-40
pubmed: 25129544
Arch Gynakol. 1968;206(4):369-410
pubmed: 4893320
Int J Androl. 2008 Aug;31(4):383-94
pubmed: 18462373
Development. 1987;101 Suppl:151-5
pubmed: 3503713
Am J Med Genet A. 2005 Jun 1;135(2):145-9
pubmed: 15880425
Hum Genet. 1978 Oct 19;44(1):1-49
pubmed: 711236
Syst Biol Reprod Med. 2011 Feb;57(1-2):27-34
pubmed: 21204751
Hum Reprod. 2012 Jun;27(6):1547-55
pubmed: 22466863
Nature. 2003 Jun 19;423(6942):825-37
pubmed: 12815422
J Clin Endocrinol Metab. 2006 Jun;91(6):2404-13
pubmed: 16608895
Cancer. 1970 Jun;25(6):1340-56
pubmed: 4193741
Am J Surg Pathol. 2015 Sep;39(9):1159-69
pubmed: 26076062
Semin Pediatr Surg. 2019 Oct;28(5):150841
pubmed: 31668295
Nat Rev Genet. 2017 Nov;18(11):675-689
pubmed: 28804140
Cancer Genet Cytogenet. 1987 Apr;25(2):191-218
pubmed: 3548944
Best Pract Res Clin Endocrinol Metab. 2010 Apr;24(2):311-24
pubmed: 20541154
Hum Reprod. 2019 Apr 1;34(4):770-779
pubmed: 30753444
Dev Biol. 2005 Nov 15;287(2):361-77
pubmed: 16214126
Reprod Fertil. 2021 Jun 07;2(2):151-160
pubmed: 35128450
Exp Clin Endocrinol Diabetes. 2015 Jan;123(1):61-5
pubmed: 25314650
Am J Med Genet. 1998 Jan 6;75(1):40-4
pubmed: 9450855
J Pediatr Urol. 2016 Oct;12(5):283.e1-283.e7
pubmed: 27052295
Mol Cytogenet. 2019 Dec 27;12:55
pubmed: 31890035

Auteurs

Peter H Vogt (PH)

Division of Reproduction Genetics, Department of Gynaecological Endocrinology & Infertility Disorders, Women Hospital, University of Heidelberg, Heidelberg, Germany.

Banu Besikoglu (B)

Division of Reproduction Genetics, Department of Gynaecological Endocrinology & Infertility Disorders, Women Hospital, University of Heidelberg, Heidelberg, Germany.
Novum, Center for Reproductive Medicine, Essen, Germany.

Markus Bettendorf (M)

Division of Paediatric Endocrinology and Diabetes, Children Hospital, University of Heidelberg, Heidelberg, Germany.

Petra Frank-Herrmann (P)

Department of Gynaecological Endocrinology & Infertility Disorders, Women Hospital, University of Heidelberg, Heidelberg, Germany.

Jutta Zimmer (J)

Division of Reproduction Genetics, Department of Gynaecological Endocrinology & Infertility Disorders, Women Hospital, University of Heidelberg, Heidelberg, Germany.

Urike Bender (U)

Division of Reproduction Genetics, Department of Gynaecological Endocrinology & Infertility Disorders, Women Hospital, University of Heidelberg, Heidelberg, Germany.

Sabine Knauer-Fischer (S)

Division of Paediatric Endocrinology and Diabetes, Children Hospital, University of Heidelberg, Heidelberg, Germany.

Daniela Choukair (D)

Division of Paediatric Endocrinology and Diabetes, Children Hospital, University of Heidelberg, Heidelberg, Germany.

Peter Sinn (P)

Division of Gynaecopathology, Department of Pathology, University Hospital Heidelberg, Heidelberg, Germany.

Helmuth-Guenther Doerr (HG)

Children Hospital; University of Erlangen, Erlangen, Germany.

Joachim Woelfle (J)

Children Hospital; University of Erlangen, Erlangen, Germany.

Peter H Heidemann (PH)

Children Hospital Augsburg I, Academic Hospital of University of Munich, Augsburg, Germany.

Yun-Fai Chris Lau (YC)

Department of Medicine, VA Medical Center 111C5, University of California, San Francisco, USA.

Thomas Strowitzki (T)

Department of Gynaecological Endocrinology & Infertility Disorders, Women Hospital, University of Heidelberg, Heidelberg, Germany.

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Classifications MeSH

questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Aberrations des chromosomes › Cassure de chromosome › Sex chromosome DSD individuals with mosaic...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Chromosomes › Chromosomes sexuels › Chromosome Y › Chromosomes Y humains › Sex chromosome DSD individuals with mosaic...
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Transferases › Phosphotransferases › Nucleotidyltransferases › RNA nucleotidyltransferases › RNA helicases › DEAD-box RNA helicases › Sex chromosome DSD individuals with mosaic...
questionsmedicales.fr › Maladies endocriniennes › Troubles gonadiques › Troubles du développement sexuel › Dysgénésie gonadique › Dysgénésie gonadique 46, XY › Gonadoblastome › Sex chromosome DSD individuals with mosaic...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Sex chromosome DSD individuals with mosaic...
questionsmedicales.fr › Facteurs biologiques › Antigènes › Isoantigènes › Antigènes d'histocompatibilité › Antigènes mineurs d'histocompatibilité › Sex chromosome DSD individuals with mosaic...
questionsmedicales.fr › Tumeurs › Tumeurs par type histologique › Tumeurs embryonnaires et germinales › Sex chromosome DSD individuals with mosaic...
questionsmedicales.fr › Maladies endocriniennes › Troubles gonadiques › Maladies ovariennes › Tumeurs de l'ovaire › Sex chromosome DSD individuals with mosaic...
questionsmedicales.fr › Phénomènes génétiques › Phénotype › Sex chromosome DSD individuals with mosaic...
questionsmedicales.fr › Maladies endocriniennes › Troubles gonadiques › Troubles du développement sexuel › Troubles du développement sexuel avec anomalie des gonosomes › Sex chromosome DSD individuals with mosaic...