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Balanced and unbalanced pericentric inversion of a chromosome 14

✍ Scribed by R. A. Pfeiffer; E. Kessel


Publisher
Springer
Year
1978
Tongue
English
Weight
419 KB
Volume
43
Category
Article
ISSN
0340-6717

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✦ Synopsis


Description of a pericentric inversion of a chromosome 14 with breakpoints at p11 and q23 leading to duplication-deficiency as a result of crossing over.


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A structural X chromosome abnormality was found in the karyotype of a tall patient with gonadal dysgenesis and with no extragenital anomalies. Based on her mother's karyotype, which showed a pericentric inversion of the X chromosome: 46,X,inv(X)(p22q24), as well as from G and R banding, we concluded

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A pericentric inversion of chromosome 12 has been followed in three large independently ascertained Danish families. Out of a total number of 52 persons examined, 25 were found to carry the inversion. The breakpoints in all three families were localized to p13 and q13, resulting in more than one-thi