Editor—Duplication of the long arm of chromosome 7 is extremely rare; most of the reported cases are partial trisomies. The first and only previous case of complete 7q duplication was reported in 1978 by Wahrman et al,1 who described a proband at 3 years of age with a phenotype including a large face with sloping forehead, downward slanting palpebral fissures, bilateral epicanthic folds, low set, malformed ears, short neck, and genitourinary and renal anomalies. Here we report a case of duplication of the whole of 7q with phenotypic characteristics similar to most reported cases of partial trisomy 7q, which include frontal bossing, low set, malformed ears, micrognathia, hypertelorism, and skeletal abnormalities.2 3 The extent of the duplication and verification of breakpoints were determined using FISH probes.

The patient was delivered by caesarian section at 34 weeks' gestation to a G1, P0, 15 year old female. She was first seen at 33 weeks' gestation when a sonogram showed multiple congenital anomalies including severe hydrocephalus, a two vessel umbilical cord, …