Chromosome Xq13.2 Microduplication Involving an X-Inactivation Gene in a Girl with Short Stature, Madelung Deformity, and von Willebrand Disease - 18/02/16
, Merick Yamada, MD 1, Vijay Tonk, PhD 2, Golder N. Wilson, MD, PhD 1Abstract |
Background |
The objective of the study was to describe a novel Xp13.2 chromosome microduplication in a child with some features of Turner syndrome but with menorrhagia after normal menarche. We used clinical evaluation and high resolution chromosome (microarray) analysis.
Case |
A 15-year-old girl with typical (short stature, pulmonic stenosis, widely-spaced nipples) and atypical (Madelung deformity, menorrhagia) manifestations of Turner syndrome had a novel chromosome constitution with extra material (microduplication) at band Xq13.2 that contained the X-inactive-specific-transcript locus. She also had connective tissue laxity, suggestive of vessel fragility as a contributor to her menorrhagia as well as her diagnosis of von Willebrand disease. This first case of selective X-inactive-specific-transcript locus duplication suggests a role for gene repression in Turner syndrome and other disorders that affect ovarian function.
Conclusion |
High-resolution chromosome (microarray) analysis, now a standard of care, will provide new insights into adolescents with abnormal growth and reproductive tract symptoms, especially when accompanied by congenital anomalies.
Le texte complet de cet article est disponible en PDF.Key Words : Menorrhagia, Short stature, X chromosome aberrations, Madelung deformity, Pulmonic stenosis, XIST gene, Turner syndrome, von Willebrand disease, Connective tissue dysplasia
Plan
| The authors have no coflict of interest to disclose. |
Vol 29 - N° 2
P. e39-e42 - avril 2016 Retour au numéro
Article précédent
- Coexistence of Mayer-Rokitansky-Küster-Hauser Syndrome and Turner Syndrome: A Case Report
- Agnieszka Bia?ka, Aneta Gawlik, Agnieszka Drosdzol-Cop, Krzysztof Wilk, Ewa Ma?ecka-Tendera, Violetta Skrzypulec-Plinta
- Evidence of a Dose-Response Relationship Between Medroxyprogesterone Acetate and Bone Mineral Density Loss in Adolescents
- Andrea E. Bonny, Hannah LH Lange, Brittny E. Manos, M. David Gothard, Lynette K. Rogers
Bienvenue sur EM-consulte, la référence des professionnels de santé.
L’accès au texte intégral de cet article nécessite un abonnement.
Déjà abonné à cette revue ?