A 30-month-old boy with mental retardation, hypotonia, joint hyperlaxity, B
rushfield spots, open mouth, distal axial triradius t ", and ulnar leaps on
both forefingers was found to have a 47,XY, +psu idic(21)(q22.1).ish psu i
dic(21)(q22.1)(D13Z1/D21Z1+ +,ETS2-) karyotype. The patient's phenotype, wi
th only some Down's syndrome (DS) features, is probably related to his diso
my for most or all of the critical region 21q22.2 --> q22.3 and agrees with
the current notion that certain DS features may also result from 21q proxi
mal duplications. The phenotypical comparison with 2 other patients with a
similar extra idic(21) reveals some discrepancies, which may be related to
the inherent clinical variability of similar imbalances; yet, a real differ
ence between the tetrasomic segments cannot be excluded. Noticeably, all 3
patients with 21q proximal tetrasomy did not have cardiac defect and exhibi
ted none or just one out of the five other DS phenotypic features attribute
d to a single gene or cluster on distal 21q22.