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.
D002869:Chromosome Aberrations / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002904:Chromosomes, Human, 21-22 and Y; D003878:Dermatoglyphics; D004423:Ear / Q000002:abnormalities; D005260:Female; D006801:Humans; D007621:Karyotyping; D012727:Sex Characteristics; D013577:Syndrome