SEVERE CLINICAL PHENOTYPE DUE TO AN INTERSTITIAL DELETION OF THE SHORT ARM OF CHROMOSOME-1 - A BRIEF REVIEW

We report on a newborn girl with malformed ears, bilateral cleft lip a nd cleft palate, complex congenital heart disease, absent left thumb, and rib abnormalities, Cytogenetic analysis demonstrated a de novo int erstitial deletion of the short arm of chromosome 1 [46,XX,del(1) (p21 p22.3)], Reports of interstitial deletions on the short arm of chromos ome 1 are rare, However, when comparing this patient's phenotype to ot hers with deletions of Ip, we found that the current case was much mor e severely affected than previously reported cases. (C) 1997 Wiley-Lis s, Inc.