Partial 18q trisomy and 18p monosomy resulting from a maternal pericentric inversion, inv(18)(p11.2q21.3)

T Asano; T Ikeuchi; T Shinohara; H Enokido; K Hashimoto

doi:10.1007/BF01910544

Partial 18q trisomy and 18p monosomy resulting from a maternal pericentric inversion, inv(18)(p11.2q21.3)

Jinrui Idengaku Zasshi. 1991 Sep;36(3):257-65. doi: 10.1007/BF01910544.

Authors

T Asano¹, T Ikeuchi, T Shinohara, H Enokido, K Hashimoto

Affiliation

¹ Department of Pediatrics, Nippon Medical School, Tokyo, Japan.

PMID: 1753439
DOI: 10.1007/BF01910544

Abstract

A 7-year-old boy with dysmorphic features was found to have a recombinant chromosome 18, rec(18), resulting from meiotic recombination of a maternal pericentric inversion, inv(18) (p11.2q21.3), as defined by high-resolution banding. He was trisomic for the long arm (q21.3-qter) and monosomic for the short arm (p11.2-pter) of chromosome 18. His clinical features were compared with those in other rec(18) cases, and also those in monosomy 18p, trisomy 18qter and full trisomy 18 syndromes. The risk of recombinant formation for inv(18) carriers was also discussed.

Publication types

Case Reports
Research Support, Non-U.S. Gov't
Review

MeSH terms

Abnormalities, Multiple / genetics
Child
Chromosome Deletion*
Chromosome Inversion*
Chromosomes, Human, Pair 18*
Humans
Male
Mothers
Recombination, Genetic
Trisomy*