TERMINAL DELETION OF THE LONG ARM OF CHROMOSOME-10 - A NEW CASE WITH BREAKPOINT IN Q25.3

Since the first patient with partial deletion of the long arm of chrom osome 10 was described in 1978, another 23 cases have been reported, w ith the breakpoint ranging from 10q123.3-26.2. To contribute further t o the delineation of the monosomy 10qter syndrome, we describe a femal e child who, at age 3 6/12 years, was diagnosed with a de nova deletio n of the long arm of chromosome 10, with a breakpoint in 10q25.3. The phenotypic manifestations in this child are compatible with those of p reviously reported cases. However, in contrast to most other patients, we found a moderate expression of the syndrome, with no genitourinary or cardiac malformations and with only mild retardation, Based on our observations and those of others, we conclude that a typical craniofa cial appearance and varying degrees of psychomotor retardation are alw ays found in patients with 10q-syndrome. (C) 1998 Wiley-Liss, Inc.