46,X,del(X)(p21) in a 14-year-old female with Turner signs, one streak and one normal ovary

M. Crisalli, C. Cuoco, G. Gimelli, R. Monteverde

Research output: Contribution to journalArticle

Abstract

A 14-year-old female is reported with a de novo deletion from Xp21 to pter. The patient shows some signs of Turner syndrome as short stature, pterygium colli, no breast development and convergent strabismus. Hormonal levels were found to be at the normal upper limits for the patient's age and a laparoscopy revealed a normal uterus, one streak gonad and one normal ovary. Histological examination of the ovary showed some normal follicles. The relations between Xp deficiencies and gonadal function are discussed.

Original languageEnglish
Pages (from-to)114-116
Number of pages3
JournalAnnales de Genetique
Volume24
Issue number2
Publication statusPublished - 1981

ASJC Scopus subject areas

  • Genetics

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    Crisalli, M., Cuoco, C., Gimelli, G., & Monteverde, R. (1981). 46,X,del(X)(p21) in a 14-year-old female with Turner signs, one streak and one normal ovary. Annales de Genetique, 24(2), 114-116.