Familial pericentric inversion of chromosome 8
โ Scribed by Sujansky, Eva ;Smith, Ann C. M. ;Peakman, David C. ;McConnell, Thomas S. ;Baca, Patricia ;Robinson, Arthur ;Opitz, John M.
- Publisher
- John Wiley and Sons
- Year
- 1981
- Tongue
- English
- Weight
- 344 KB
- Volume
- 10
- Category
- Article
- ISSN
- 0148-7299
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๐ SIMILAR VOLUMES
Two cases of pericentric inversion of chromosome 12 are presented, one 46,XX,inv(12)(p13;q11) and the other was also a heterozygotic carrier of the inversion. These inversions were detected among 4035 cytogenetic analyses carried out in patients with psychosomatic retardation and/or malformations (3
We investigated 33 individuals (21 carriers) from one family with a pericentric inversion involving a large part of chromosome 1 (1p36.1----1q32). In addition, we investigated 15 individuals (10 carriers) from another family with a paracentric inversion of a small part of chromosome 1 (1p32----1p36.
An infant with multiple congenital anomalies was found to have a duplication-deficiency disorder involving chromosome No. 8. The abnormality was identified as an unbalanced recombinant inherited from the mother who was a carrier of a pericentric inversion of chromosome No. 8. The inversion was obser