A Child With Partial Deletion of a G-Group Autosome

Ring-G Chromosome, a New G-Deletion Syndrome?

“…Our patient closely resembles another patient with a G-chromosome deletion studied by Reisman et al 5 The phenotypic findings in these two patients and in pa¬ tients with the G-deletion syndrome of antimongolism are compared in Table 2.…”

A child with a ring G chromosome (46,XX, Gr).

“…Similar cytogenetic findings have been observed in patients who, though mentally retarded, did not have the somatic abnormalities associated with the antimongolism syndrome (Reisman et al, 1967;Hoefnagel et al, 1967;Weleber, Hecht, and Giblett, 1968;Bauchinger, Schmid, and Rottinger, 1968;Blank and Lorber, 1969). An explanation for the diverse clinical features associated with monosomy or deletion of a G group chromosome may be that deficiencies for the 21 and 22 chromosome are combined as one group.…”

Apparent G-monosomy, G-deletion, and incomplete Down's syndrome in a single family.

“…original report, 14 other cases with G group chromosome deletions or ring chromosomes were described (Broyer et al, 1966;Penrose, 1966;Reisman et al, 1966;Thorburn and Johnson, 1966;Al-Aish et al, 1967;Hoefnagel et al, 1967;Reisman et al, 1967;Weleber, Hecht, and Giblett, 1968;Bauchinger, Schmid, and Rottinger, 1968;Zdansky et al, 1969;Blank and Lorber, 1969;Challacombe and Taylor, 1969;Warren and Rimoin, 1970). Some patients displayed features similar to those reported by Lejeune and his colleagues but others were retarded children without the characteristic signs of antimongolism.…”