Pericentric inversions in man: personal experience and review of the literature
- 1 April 1987
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 75 (4), 333-338
- https://doi.org/10.1007/bf00284103
Abstract
The Leuven cytogenetic centre experience on pericentric inversion in man is discussed with exclusion of the pericentric inversions of the heterochromatic blocks of chromosomes 1 and 9. In a total of 51,500 patients, referred for constitutional chromosome analysis during the period 1970–1985, pericentric inversions were found in 24 index patients. The breakpoints detected in these different pericentric inversions are summarized and compared to those found in previous reports. Bands 2p13, 2q21, 5q31, 6c21, 10q22, and 12q13 were shown to be repeatedly involved in the different studies and, furthermore, breakpoints at bands 2q11, 5p13, 5p15, 5q13, 7q11, 11q25, and 14p11 were present in this study as well as in our previous review on reciprocal autosomal translocations. In 13 familial pericentric inversions, even after exclusion of all inversion carrier probands, a 1.6:1 excess of pericentric inversion carriers versus karyotypically normal progeny was observed. While chromosomally unbalanced offspring represent 3.5% of all chromosomally investigated liveborns of the present study, 7.1% of all liveborn inversion carrier offspring presented with a mental retardation and/or multiple congenital anomalies (MR/MCA) problem. Additional chromosomal abnormalities, i.e. a 21 trisomy and an accessory small ring chromosome were observed in two pericentric inversion carriers. These data and results are discussed and compared to the data available in the literature.Keywords
This publication has 63 references indexed in Scilit:
- Pericentric inversion inv(3)(p11q21).Journal of Medical Genetics, 1984
- Familial partial monosomy 5p and trisomy 5q; three cases due to paternal pericentric inversion 5 (p151q333)Clinical Genetics, 1984
- Fragile sites and chromosome breakpoints in constitutional rearrangements II. Spontaneous abortions, stillbirths and newbornsClinical Genetics, 1984
- Two pericentric inversions, inv(2)(p11q13) and inv(5)(p13q13), in a patient referred for psychiatric problemsJournal of Medical Genetics, 1982
- Human chromosome heteromorphisms in American blacks: II. Higher incidence of pericentric inversions of secondary constriction regions (h)American Journal of Medical Genetics, 1981
- Pericentric inversion, inv(9) (p22 q32), in the father of a child with a duplication‐deletion of chromosome 9 and gene dosage effect for adenylate kinase‐1Clinical Genetics, 1980
- Pericentric inversions inv(2)(p11q13) and inv(2)(p13q11) in 2 unrelated families.Journal of Medical Genetics, 1978
- Two pericentric inversions of human chromosome 11.Journal of Medical Genetics, 1977
- Pericentric inversion of chromosome 14 and the risk of partial duplication of 14q (14q31 → 14qter)American Journal of Medical Genetics, 1977
- Pericentric inversion, inv(10), in a mother and aneusomy by recombination, inv(10),rec(10), in her sonCytogenetic and Genome Research, 1973