CHROMOSOMENBEFUNDE BEIM ECHTEN KLINEFELTER-SYNDROM

Author:

Nowakowski H.,Lenz W.,Bergman S.,Reitalu J.

Abstract

ABSTRACT Chromosome analysis in 13 patients with true Klinefelter's syndrome revealed in the majority of the cases a variation of the typical number of 47 chromosomes characteristic for the disease. The deviation varied in positive or negative direction or both, that is, in addition to the typical complement of 47 chromosomes the number ranged between 45 and 49. Clinically there was a pronounced correlation between the pathologic karyotypes and the low intelligence of the patients.

Publisher

Bioscientifica

Subject

Endocrinology,General Medicine,Endocrinology, Diabetes and Metabolism

Cited by 23 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Epigenetics and genomics in Klinefelter syndrome;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2020-06

2. A rare 47 XXY/46 XX mosaicism with clinical features of Klinefelter syndrome;International Journal of Pediatric Endocrinology;2016-06-02

3. CHROMOSOME STUDIES IN CONNECTION WITH SEX CHROMOSOMAL DEVIATIONS IN MAN;Hereditas;2009-09-02

4. Karyotype XX/XY/XXY/XXXY in a Klinefelter patient;Hereditas;2009-09-02

5. Cytological and clinical observations in XXY/XX/XY/XO mosaicism;Hereditas;2009-09-02

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