A 3p deletion syndrome in a child with both del(3)(p25 -> pter) and dup(17)(q23 -> qter)

A child with monosomy for the distal part of the short arm of chromosome 3 (3p25-->pter) and trisomy for the terminal portion of the long arm of chrom osome 17 (17q23-->qter) is presented. This unbalanced karyotype was derived from a balanced reciprocal 3p/17q translocation in the phenotypically norm al mother. Main clinical features in the proband included growth and mental retardation, hypotonia, hirsutism, micro/brachycephaly, triangular face, s ynophris, broad and full nose, long philtrum, narrow upper lip, low set, po steriorly turned ears, anteriorly placed anus and congenital heart defect ( Tetralogy of Fallot). Most of these clinical manifestations have been const antly reported in previous cases with terminal 3p deletion.