Probable Monosomy-21 and Partial Trisomy

Karyotype 45,XX,-21/46,XX,21q- in an infant with symptoms of G-deletion syndrome I

“…Hypotonia, epicanthus, ptosis, syndactyly, and mental retardation were frequently observed (Reisman et al, 1967;Berger 1972;Warren, Rimoin, and Summitt, 1973). Complicated rearrangements with G chromosomes with additional or missing chromosome material were reported (Rethore et al, 1972;Koivisto et al, 1973). As well as a missing chromosome 21 an unidentified small metacentric chromosome was also found in Koivisto's case.…”