Unbalanced translocation 8/X in a girl
Ickstadt, A.; Palitzsch, D.; Foerster, W.; Fuhrmann-Rieger, A.
Monatsschrift Kinderheilkunde Organ der Deutschen Gesellschaft für Kinderheilkunde 137(4): 239-242
1989
ISSN/ISBN: 0026-9298 PMID: 2733701 Document Number: 340987
A girl with mild psychomotoric retardation, dysmorphic stigmata, feeding difficulties and recurrent infections is described, who has been observed from the age of 7 months to 3 2/12 years. Chromosomal analysis revealed an unbalanced X-autosomal translocation between the greater parts of the long arm of an X-chromosome and the long arm of an chromosome 8 resulting in a partial trisomy 8q and partial monosomy Xq.