Mosaic ring X chromosome in a case of secondary amenorrhea
β Scribed by Alexandra Chrisoulidou; Helen Bili; Eleni Georgiou; Sotiria Mavroudi; Anna S. Lazaridou
- Book ID
- 116472559
- Publisher
- Elsevier Science
- Year
- 2008
- Tongue
- English
- Weight
- 203 KB
- Volume
- 90
- Category
- Article
- ISSN
- 1556-5653
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π SIMILAR VOLUMES
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.
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.
Cytogenetic studies on lymphocytes from a 14-year-old mentally retarded girl with somatic anomalies suggestive of a chromosomal abnormality revealed a ring chromosome 15. The long arm of the defective chromosome is broken at band q24 or q25. The silver staining technique for nucleolus organizer regi