Fragile X syndrome in a girl with variant Turner syndrome and an isodicentric X chromosome.
Developmental paediatrocs
Genetics
Paediatrics (drugs and medicines)
Journal
BMJ case reports
ISSN: 1757-790X
Titre abrégé: BMJ Case Rep
Pays: England
ID NLM: 101526291
Informations de publication
Date de publication:
26 Jul 2022
26 Jul 2022
Historique:
pmc-release:
26
07
2024
entrez:
26
7
2022
pubmed:
27
7
2022
medline:
29
7
2022
Statut:
epublish
Résumé
Fragile X (FXS) and Turner (TS) syndromes are X-chromosome-associated disorders. Herein, we report the case of a girl in middle childhood with bicuspid aortic valve in infancy, growth failure, global developmental delay (GDD), visual problems, and coexisting attention-deficit/hyperactivity and anxiety disorders. A high-resolution karyotype in 20 cells revealed 46,X,Idic(X)(p11.21)[19]/45,X[1], suggestive of variant TS. Given her atypical phenotype, subsequent DNA testing was performed. Four
Identifiants
pubmed: 35882436
pii: 15/7/e247901
doi: 10.1136/bcr-2021-247901
pmc: PMC9330300
pii:
doi:
Substances chimiques
FMR1 protein, human
0
Fragile X Mental Retardation Protein
139135-51-6
Guanine
5Z93L87A1R
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© BMJ Publishing Group Limited 2022. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: RH is funded by the Azrieli Foundation for a controlled trial of metformin in FXS. FT received funding from the Azrieli Foundation and from Zynerba for studies in FXS. SS holds the Children’s Miracle Network endowed chair in paediatrics and receives grant support from it. The other authors declare that they have no competing interests.