Three Unusual Trisomic Patterns in Children

An infant with double trisomy (48,XXX, + 18)

“…Muscle tone was reported to be either hypertonic [Uchida et al, 1962;Engel et al, 1967;Imai et al, 19871 or hypotonic [Emberger et al, 1971;Rosenfeld et al, 19811. In our patient, hypotonia was severe and persistent, with lack of head control and no progression in motor development.…”

Double aneuploidy (47,XX,21+-45,X) arising through simultaneous double non-disjunction.

“…In addition, structural rearrangements of the autosomes coexisting with autosomal trisomy have been noted (Petit et al, 1968;Subrt and Prchlikova, 1969;Miller et al, 1970). Mixed sex-chromosomal and autosomal double aneuploidy has been of the types 48,XXX,18 + (Uchida and Bowman, 1961;Uchida et al, 1962;Ricci and Borgatti, 1963;Haas and Lewis, 1966;Engel et al, 1967); 48,XXX,21 + (Day et al, 1963); 48,XXY,13 + (Pergament and Kadotani, 1965); 48,XXY,21 + (Ford et al, 1959;Hustinx et al, 1961/62;Punnet and DiGeorge, 1967); 48,XXY,18 + (Cohen and Bumbalo, 1967); 46, XXY,D -D -,t(Dq,Dq) + (Tiepolo et al, 1967); 48,XYY,21 + (Verresen and van den Berghe, 1965;Uchida, Ray, and Duncan, 1966); 46,X,13 + /47,XX, 13 + (Franceetal, 1967); 44,X,D -D -,t(Dq,Dq) + / 45,XX,D -D -,t(Dq,Dq) + (Stahl et al, 1966); and 46,X,21 + /47,XX,21 + (Root et al, 1964;Candela et al, 1966;Duillo and Serra, 1969). In almost all these instances, both chromosomal anomalies were observed in the same cell.…”