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A case of "g 2 deletion syndrome": ring or partial monosomy? (46,XX,22r or 46,XX,22p- ?).

Abstract

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.

PMID:
1235937
[Indexed for MEDLINE]
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