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.
|Number of pages||3|
|Journal||Annales de Genetique|
|Publication status||Published - 1981|
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