A Case of “G 2 Deletion Syndrome”: Ring or Partial Monosomy? (46,XX,22r or 46,XX,22p- ?)

A case of "G2 Deletion Syndrome" is reported, based on concordant cytogenetic, clinical and dermatoglyphic findings. The definition if the syndrome, as associated with either a ring or a partially deleted chromosome 22, is discussed. The resulting interpretation favours the hypotheses of deletion of the short arm extending into the centromere.