We report on a 5-month-old girl with widely spaced nipples, redundant
nuchal skin, coarctation of the aorta, anal atresia with distal fistul
a, postnatal growth retardation, hypotonia, and sparse scalp hair. Ini
tial clinical assessment suggested the diagnosis of Ullrich-Turner syn
drome. Chromosome analysis showed a 46,XX,del(2)(q37) karyotype in per
ipheral lymphocytes. We compare her findings to those of other reporte
d patients with terminal deletions of 29. (C) 1994 Wiley-Liss, Inc.