A patient with gonadal dysgenesis and 46 chromosomes is described. In the inactive X chromosome there seems to be a deletion of the short arms and an insertion of heterochromatin in the long arms. The most probable mechanism to explain this structurally abnormal X is a pericentric inversion, with br
β¦ LIBER β¦
A NEW TYPE OF CHROMOSOMAL ABNORMALITY IN GONADAL DYSGENESIS
β Scribed by Fraccaro, M.; Ikkos, D.; Lindsten, J.; Luft, R.; Kaijser, K.
- Book ID
- 122931449
- Publisher
- The Lancet
- Year
- 1960
- Tongue
- English
- Weight
- 264 KB
- Volume
- 276
- Category
- Article
- ISSN
- 0140-6736
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This paper presents a female patient with primary amenorrhea in whose karyotype an aberrant X chromosome was present. The chromosome resulted from the fusion of two X chromosomes at distal parts of the long arm and from the loss of the segment q24 leads to qter. The clinical and cytogenetic picture