A child with a recombinant of chromosome 8 inherited from her carrier mother.
A female child with mental retardation and dysmorphic features was found to have a duplication deficiency of chromosome 8: rec(8)dup q,inv(8)(p23q24), a recombinant product derived from a familial pericentric inversion, inv(8)(p23q24)mat. Clinical features of this previously undescribed inversion product are compared with other reported cases of partial trisomy for the distal long arm of chromosome 8, since this segment is thought to be primarily responsible for the phenotypic features of the trisomy 8 syndrome.
D000328:Adult; D002675:Child, Preschool; D002871:Chromosome Banding; D007446:Chromosome Inversion; D002906:Chromosomes, Human, 6-12 and X; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D010375:Pedigree; D011995:Recombination, Genetic; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome; D014314:Trisomy