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 language | English |
|---|---|
| Pages (from-to) | 114-116 |
| Number of pages | 3 |
| Journal | Annales de Genetique |
| Volume | 24 |
| Issue number | 2 |
| Publication status | Published - 1981 |
ASJC Scopus subject areas
- Genetics
Fingerprint Dive into the research topics of '46,X,del(X)(p21) in a 14-year-old female with Turner signs, one streak and one normal ovary'. Together they form a unique fingerprint.
Cite this
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.