CLINICAL OUTCOMES OF 4 PATIENTS WITH MICRODELETION IN THE LONG ARM OFCHROMOSOME-2

We present clinical outcome, through several years of follow-up, of 4 mentally retarded patients, each with a small interstitial deletion in the long arm of chromosome 2, within a region on which clinical repor ts are infrequent. Our patient 1 was found to have del(2)(q22.3q23.3); patients 2 and 3, del(2)(q23.3q24.2); and patient 4, del(2) (q24.2q31 ). By comparison of our cases with each other and with those previousl y published with comparable interstitial deletion, we attempted to ide ntify characteristic clinical findings. Short neck with excessive cerv ical skin was seen with monosomy of chromosome 2 bands q22.3-q23.3, wh ile hypertrichosis and a peculiar high pitched cry were seen with mono somy of chromosome 2 bands q23.3-q24.2. As suggested by Moller et al. [1984: Hum Genet 68:77-86], a cleft between the first and second toes was seen with monosomy of chromosome 2 bands q24.2-q31. In addition, s eizure disorder was present in patients 1 and 4 (with the more proxima l and distal deletions, respectively). (C) 1998 Wiley-Liss, Inc.