Duplication-deficiency of chromosome 18, resulting from recombination of a paternal pericentric inversion, with a note for genetic counselling
- 1 February 1980
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 53 (2) , 195-200
- https://doi.org/10.1007/bf00273495
Abstract
A fifth case of rec(18) resulting from recombination of a paternal pericentric inversion is described. The propositus' complement includes a chromosome 18 with partial deletion of the long arm, and partial duplication of the short. The recombination risk is evaluated at 5%. The eventuality of deleterious effects of pericentric inversions is discussed.This publication has 17 references indexed in Scilit:
- Abnormalities resulting from a familial pericentric inversion of chromosome 18Clinical Genetics, 2008
- Familial pericentric inversion of chromosome 19, inv(19) (p13q13) with a note on genetic counseling of pericentric inversion carriersClinical Genetics, 2008
- THE CHROMOSOMAL BASIS OF HUMAN INFERTILITYBritish Medical Bulletin, 1979
- Cytogenetics of Recurrent AbortionsFertility and Sterility, 1978
- Meiotic analysis of a pericentric inversion, inv(7) (p22q32), in the father of a child with a duplication-deletion of chromosome 7Cytogenetic and Genome Research, 1978
- CLOSER LOOK AT CHROMOSOMAL INVERSIONS1976
- A cytogenetic survey of 14,069 newborn infantsClinical Genetics, 1975
- Pericentric inversion, inv(10), in a mother and aneusomy by recombination, inv(10),rec(10), in her sonCytogenetic and Genome Research, 1973
- Incidence and mutation rates of structural rearrangements of the autosomes in manAnnals of Human Genetics, 1972
- [A new technic of analysis of the human karyotype].1971