Giant satellites or translocation?

An infant with craniostenosis and retardation was found to have giant satellites on chromosome No. 13. Trypsin-Giemsa banding studies demonstrated, in addition, a partially deleted short arm of chromosome No. 7. The chromosome analysis from the child was tentatively interpreted as 46,XX,t(7p–;13s+). The parents showed normal results from chromosome analysis, including normal Giemsa banding patterns and no giant satellites. The relationship of the karyotype to the child’s abnormalities is unknown. This study indicates the advisability of routine Giemsa banding techniques for the evaluation of karyotypes interpreted as normal or unresolved in the instance of pheno-typically abnormal patients and for the evaluation of karyotypes with “minor” chromosome variants.