A 1-year -old boy was referred to our clinic because of developmental delay. He was the fourth offspring of an unrelated healthy couple and his siblings had no significant health problems. He was born by natural delivery after a full term pregnancy weighing 1,500 gr and head circumstance within the normal range. At examination he had frontal bossing, small jaw, low-set ears, deep-set eyes, strabismus, drooping left upper eyelid, widely-spaced eyes, short nose, long philtrum, down-curved upper lip, camptodactyly, hypotonia, and macrocephaly (Figure 1). He had severe psychomotor retardation, failure to thrive, and poor interaction with the environment.

Cytogenetic analysis of phytohemagglutinin (PHA) stimulated peripheral blood sample was performed and showed additional material on the long arm of chromosome 7 (Figure 2). Chromosomal analysis of both parents revealed normal karyotypes. High resolution chromosomal analysis of the proband showed 46,XY,dup 7(q21.2-q32). Twelve patients with duplication/trisomy of 7q have been reported [1-8]. A summary of clinical findings of patients with partial duplication of 7q is given in Table 1.

Our patient confirms that partial trisomy/duplication of 7q is associated with macrocephaly, frontal bossing, failure to thrive, psychomotor delay and malformed ears. However, correlation of phenotype-genotype is still problematic, possibly because of the existence of an undetectable cell line in patients with pure partial 7q trisomy or monosomy to explain the great clinical variability between reported patients as has been emphasized by Morales et al [9].

To the best of our knowledge, our patient is the first reported case of a duplicated 7q for the region between 7q21.2 and 7q32. We suggest that the 7q21.2 region may be critical for the macrocephaly with frontal bossing in our patient and in the patient of Lukusa et al. [4].