Turner syndrome due to Xp22.33 deletion with preserved gonadal function: case report.
Journal
Oxford medical case reports
ISSN: 2053-8855
Titre abrégé: Oxf Med Case Reports
Pays: England
ID NLM: 101642070
Informations de publication
Date de publication:
May 2019
May 2019
Historique:
received:
31
10
2018
revised:
14
01
2019
accepted:
09
03
2019
entrez:
20
6
2019
pubmed:
20
6
2019
medline:
20
6
2019
Statut:
epublish
Résumé
Turner syndrome (TS) is a chromosomal condition affecting 1 in 2000 females characterized by partial or complete loss of one of the X chromosomes. We describe an 11-year-old female who was recently diagnosed with TS. Karyotype revealed a deletion of the distal portion of chromosome X. Chromosome single nucleotide polymorphism (SNP) array revealed microdeletion of Xp22.33p22.12. Patient reached her menarche at age 11 years. Both the patient and her mother have short stature. Her mother, however, has a normal karyotype. This is one of few case reports of TS with microdeletion of Xp22.33 reported in the literature, with normal ovarian function and possible future transmission of the deletion to the next generations.
Identifiants
pubmed: 31214355
doi: 10.1093/omcr/omz028
pii: omz028
pmc: PMC6570789
doi:
Types de publication
Case Reports
Langues
eng
Pagination
omz028Références
Hum Mol Genet. 2000 Mar 22;9(5):695-702
pubmed: 10749976
N Engl J Med. 2004 Sep 16;351(12):1227-38
pubmed: 15371580
Hum Genet. 2006 Jan;118(5):640-51
pubmed: 16283387
Pediatr Neurol. 2008 Apr;38(4):289-92
pubmed: 18358412
Am J Med Genet A. 2012 Jun;158A(6):1462-6
pubmed: 22581654
Ann Pediatr Endocrinol Metab. 2013 Mar;18(1):13-8
pubmed: 24904845
Ann Pediatr Endocrinol Metab. 2014 Dec;19(4):225-8
pubmed: 25654070
Reprod Biol Endocrinol. 2015 Jun 10;13:59
pubmed: 26060131
Horm Res Paediatr. 2016;86(5):349-356
pubmed: 27459301
Pediatrics. 2017 Nov;140(5):
pubmed: 29084833
Am J Med Genet. 1996 May 3;63(1):239-42
pubmed: 8723116