SMALL TERMINAL DELETIONS OF THE LONG ARM OF CHROMOSOME-2 - 2 NEW CASES

We report on 2 girls with small de novo terminal deletions of the long arm of chromosome 2 and breakpoints within q37. Four cases with simil ar or more extensive deletions have been previously reported in full. Hypotonia and psychomotor retardation were the only manifestations com mon to all 6 cases. The phenotype associated with small terminal 2q de letions is variable and clearly not always as mild as indicated in pre vious reports. The abnormality may also be more common than has been a ssumed. (C) 1994 Wiley-Liss, Inc.