Familial pericentric inversion of chromosome 13 resulting in duplication 13q22->qter
- 1 June 1982
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 19 (3) , 227-229
- https://doi.org/10.1136/jmg.19.3.227
Abstract
A 10-yr-old male with a recombinant (13)dup q chromosome is reported. The recombinant chromosome originated from a maternal pericentric inversion which was present in 2 of his 4 normal sibs. A segregation analysis of 60 pregnancies from which one of the parents was a carrier of inv(13) showed a significant predominance of males among the viable offspring.This publication has 7 references indexed in Scilit:
- Partial trisomy 13q21?qter de novo due to a recombinant chromosome rec(13)dup qHuman Genetics, 1979
- Partial trisomy 13 presumably due to recombination in an inversion heterozygote and by unequal crossing‐overAnnals of Human Genetics, 1978
- Trisomy for the Distal Segment of Chromosome 13American Journal of Diseases of Children, 1974
- Duplication/deficiency product of a pericentric inversion in man: A cause of D1 trisomy syndromeThe Journal of Pediatrics, 1973
- Pericentric enversion of chromosome no. 13 in a large family leading to duplication deficiency causing congenital malformations in three individuals.Journal of Medical Genetics, 1972
- Inherited pericentric inversion of a group D (13-15) chromosome.Journal of Medical Genetics, 1972
- Patau's syndrome with D1 duplication-deficiency derived from a maternal D group pericentric inversionAnnals of Human Genetics, 1971