This paper presents the clinical and cytogenetic findings in a female patient with secondary amenorrhea and normal phenotype. Some difficulties related to karyotype-phenotype correlation are discussed.
Partial long arm deletion of one X chromosome in a patient with secondary amenorrhea
โ Scribed by U. Ruthner; S. Maschik; F. Friedrich; G. Breitenecker
- Publisher
- Springer
- Year
- 1979
- Tongue
- English
- Weight
- 237 KB
- Volume
- 48
- Category
- Article
- ISSN
- 0340-6717
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โฆ Synopsis
A partial long arm deletion of one X chromosome was observed in a patient with secondary amenorrhea and with no features of Turner's syndrome. It was shown that the deleted X chromosome was the inactivated one in all metaphases of the lymphocyte culture and of the tissue culture from gonadal biopsy. The patient was detected during a cytogenetic study of secondary amenorrhea of ovarian origin.
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