U-type exchange in a paracentric inversion as a possible mechanism of origin of an inverted tandem duplication of chromosome 8

A mentally retarded male with dysmorphic features was found to have a de novo 46,XY,inv dup(8) (p.23.1-->12). Confirmation of the segments duplicated in the rearrangement was achieved by biochemical analysis of glutathione reductase, which maps to 8p21.1, and DNA studies using the chromosome spec...

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Bibliographic Details
Published inAmerican journal of medical genetics Vol. 49; no. 4; p. 384
Main Authors Mitchell, J J, Vekemans, M, Luscombe, S, Hayden, M, Weber, B, Richter, A, Sparkes, R, Kojis, T, Watters, G, Der Kaloustian, V M
Format Journal Article
LanguageEnglish
Published United States 15.02.1994
Subjects
Abnormalities, Multiple - genetics
Child, Preschool
Chromosome Inversion
Chromosomes, Human, Pair 8
Face - abnormalities
Humans
Intellectual Disability - genetics
Karyotyping
Male
Multigene Family
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Summary:A mentally retarded male with dysmorphic features was found to have a de novo 46,XY,inv dup(8) (p.23.1-->12). Confirmation of the segments duplicated in the rearrangement was achieved by biochemical analysis of glutathione reductase, which maps to 8p21.1, and DNA studies using the chromosome specific probe y-19-1D (D85131), which maps to 8p21. Assay of cathepsin B, which has been localised to 8p22, did not differ from controls with normal chromosomal constitution. DNA studies using the Defensin 1 gene probe, which maps to 8p23, showed a previously undetected deletion of that segment. We propose that the inverted tandem duplication/deletion arose as a single U-type exchange within an inversion loop.
ISSN:0148-7299
DOI:10.1002/ajmg.1320490406