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

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

Istituto "Giannina Gaslini"

Research output: Contribution to journal › Article › peer-review

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

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

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.",

author = "M. Crisalli and C. Cuoco and G. Gimelli and R. Monteverde",

year = "1981",

language = "English",

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T1 - 46,X,del(X)(p21) in a 14-year-old female with Turner signs, one streak and one normal ovary

AU - Crisalli, M.

AU - Cuoco, C.

AU - Gimelli, G.

AU - Monteverde, R.

PY - 1981

Y1 - 1981

N2 - 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.

AB - 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.

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JO - Annales de Genetique

JF - Annales de Genetique

SN - 0003-3995

IS - 2

ER -

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

Abstract

ASJC Scopus subject areas

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