De Novo X/X Translocation in a Patient with Secondary Amenorrhea
✍ Scribed by Yelda Tarkan; Seniha Hacihanefioǧlu; Asli N. Silahtaroǧlu; Ayhan Deviren; Deniz Topçuoǧlu; Asim Cenani
- Book ID
- 114809788
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 413 KB
- Volume
- 122
- Category
- Article
- ISSN
- 0018-0661
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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.
A case of X-autosome translocation was diagnosed prenatally [46,X,t(X;9)(p21.3∼ 22.1;q22]. We describe the use of fluorescence in situ hybridization (FISH) to estimate the integrity of the Duchenne muscular dystrophy (DMD) gene. X-inactivation studies were used as well to assess the probability of p