Pericentric inversion of chromosome 4 giving rise to dup(4p) and dup(4q) recombinants within a single kindred
- 1 January 1993
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 45 (1), 5-8
- https://doi.org/10.1002/ajmg.1320450104
Abstract
Theoretically, every pericentric inversion can give rise, during meiosis, to 2 alternate recombinant chromosomes. One of these will have a duplication of short arm material and deletion of long arm material (dup p), and the other, a duplication of a long arm material and deletion of short arm material (dup q). However, most published cases have been limited to a single recombinant type occurring within a given kindred. Here we document a large pericentric inversion of chromosome 4 which gave rise, within 2 generations of a kindred, to both dup p and dup q recombinants. The family was ascertained by the birth of a baby girl with multiple congenital anomalies suggestive of Wolf‐Hirschhorn syndrome, and was found to have a dup 4q recombinant. Subsequent studies of her father and of her 27‐year‐old mentally retarded aunt showed a balanced inv(4) (p15.32q35) and a dup 4p recombinant, respectively. Given that: (a) the balanced inversion involves approximately 87% of the length of chromosome 4; (b) the predicted meiotic pairing would be homosynapsis with loop formation; (c) the size of the segments distal to the breakpoints of the inversion are of similar and relatively small size; and (d) both recombinants are compatible with life, then the risk for recurrence of a recombinant in this family is high. Genetic counseling addressed these issues, and to date, both chronic villus sampling (CVS) and amniocentesis have been provided for prenatal diagnosis.Keywords
This publication has 19 references indexed in Scilit:
- Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: Data from United States and Canadian laboratoriesAmerican Journal of Medical Genetics, 1989
- Synaptonemal complexes in a subfertile man with a pericentric inversion in chromosome 21Cytogenetic and Genome Research, 1988
- Pericentric inversion in human chromosome 1 and the risk for male sterility.Journal of Medical Genetics, 1987
- EM investigations of surface spread synaptonemal complexes in a human male carrier of a pericentric inversion inv(13)(p12q14): the role of heterosynapsis for spermatocyte survivalAnnals of Human Genetics, 1986
- Endocrine abnormalities in a patient with partial trisomy 4q.Journal of Medical Genetics, 1984
- Pericentric inversion (13) with two different recombinants in the same family.Journal of Medical Genetics, 1980
- Pericentric inversion of chromosome 14 and the risk of partial duplication of 14q (14q31 → 14qter)American Journal of Medical Genetics, 1977
- The trisomy 4p syndrome: Case report and reviewAmerican Journal of Medical Genetics, 1977
- Partial monosomy and partial trisomy 18 in two offspring of carrier of pericentric inversion of chromosome 18.Journal of Medical Genetics, 1976
- Cytological assessment of meiotic exchange in a human male with a pericentric inversion of chromosome No. 4Cytogenetic and Genome Research, 1975