Phenotypic expression of tissue mosaicism in a 45,X/46,X,dicY(q11.2) female

We describe a girl who presented at the age of 11 years with short stature. She had female external genitalia and some clinical features of Turner syndrome. At laparotomy a uterus and Fallopian tubes and small gonad‐like tissue masses in the region of the Fallopian fimbria were found. The tissue mas...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:American journal of medical genetics 2001-09, Vol.102 (4), p.318-323
Hauptverfasser: Udler, Yevgenia, Kauschansky, Arieh, Yeshaya, Josepha, Freedman, Jane, Barkai, Uriel, Tobar, Ana, Okon, Elimelech, Halpern, Gabrielle J., Shohat, Mordechai, Legum, Cyril
Format: Artikel
Sprache:eng
Schlagworte:
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!