Loss of the 3p25.3 band is critical in the manifestation of del(3p) syndrome : karyotype-phenotype correlation in cases with deficiency of the distal portion of the short arm of chromosome 3

Two patients with monosomy for the distal portion of the short arm of chromosome 3 are described. Chromosome analysis on prometaphase cells demonstrated a karyotype of 46,XX, del(3) (p25.3) in one patient and 46,XX, r(3)(p26.1q29) in the other. The former patient showed characteristic clinical manifestations of the 3p- syndrome, including growth failure, mental retardation, microcephaly with a flat occiput, triangular face, synophrys, blepharoptosis, hypertelorism, broad and flat nose, long philtrum, downturned mouth, micrognathia, apparently lowset and malformed ears, finger abnormalities, and deafness. The latter patient had a nonspecific phenotype with mental retardation, growth failure and microcephaly. Karyotypephenotype comparisons in the present cases and 16 previously reported cases with deficiency of the distal portion of 3p suggests that deficiency of the 3p25.3 band is critical to produce the main clinical manifestations of the del(3p) syndrome.