Complex chromosomal rearrangement leading to partial trisomy 22.

1 February 1980

journal article
case report
Published by BMJ in Journal of Medical Genetics

Vol. 17 (1) , 66-68
https://doi.org/10.1136/jmg.17.1.66

Abstract

We have examined a boy with a peculiar facial appearance and mental retardation. Cytogenetic studies showed 47,XY, monosomy 22, two marker chromosomes, M1 and M2. The karotype is interpreted as functionally partial trisomy 22. Chromosome analyses of both parents and three sibs were normal.

Keywords

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