Laparoscopic Hysterectomy and Bilateral Salpingectomy in a Patient with Microduplication Syndrome (20p13p12.1) and a Bicornuate Uterus: An Unreported Association.
chromosome duplication
comparative genomic hybridization
duplication 20p
trisomy
trisomy 20p
uterine anomalies
Journal
International journal of women's health
ISSN: 1179-1411
Titre abrégé: Int J Womens Health
Pays: New Zealand
ID NLM: 101531698
Informations de publication
Date de publication:
2020
2020
Historique:
received:
14
03
2020
accepted:
23
05
2020
entrez:
9
9
2020
pubmed:
10
9
2020
medline:
10
9
2020
Statut:
epublish
Résumé
Trisomy 20p is a chromosomal anomaly resulting from whole or partial duplication of the short arm of chromosome 20. It is a rarely reported syndrome and it is estimated that there are only a few cases of this condition worldwide, which hampers the phenotypic characterization of this entity. Conversely, müllerian anomalies include a group of congenital malformations of the uterus, vagina, cervix, and fallopian tubes resulting from alterations in the embryological development of the müllerian ducts. We report a case of pure trisomy 20p diagnosed using array comparative genomic hybridization (CGH) accompanied by a müllerian anomaly in a female patient with abnormal growth pattern, round face, coarse hair, broad nose, long palpebral fissure, epicanthus, and megaureter.
Identifiants
pubmed: 32904596
doi: 10.2147/IJWH.S253885
pii: 253885
pmc: PMC7457575
doi:
Types de publication
Case Reports
Langues
eng
Pagination
675-679Informations de copyright
© 2020 Pachajoa et al.
Déclaration de conflit d'intérêts
The authors report no conflicts of interest for this work.
Références
Fertil Steril. 2002 Nov;78(5):899-915
pubmed: 12413972
Clin Genet. 1992 Jun;41(6):285-9
pubmed: 1623622
Prenat Diagn. 2006 Mar;26(3):239-41
pubmed: 16485319
Obstet Gynecol Surv. 2017 Jun;72(6):377-392
pubmed: 28661551
Hum Reprod. 2013 Aug;28(8):2032-44
pubmed: 23771171
Am J Med Genet A. 2009 Mar;149A(3):437-45
pubmed: 19206177
Ann Lab Med. 2020 May;40(3):277-280
pubmed: 31858772
Fertil Steril. 2007 Feb;87(2):335-42
pubmed: 17126338
Am J Med Genet. 2000 Dec 11;95(4):316-9
pubmed: 11186883
J Med Genet. 2000 Jun;37(6):454-8
pubmed: 10928855
Am J Med Genet A. 2003 Jul 30;120A(3):429-33
pubmed: 12838568
Diagnostics (Basel). 2019 Oct 17;9(4):
pubmed: 31627332
Gene. 2013 Jul 25;524(2):368-72
pubmed: 23612255
Am J Med Genet A. 2003 Feb 15;117A(1):76-9
pubmed: 12548744