A Case of Partial Inverted Duplication of Chromosome 7q

ABSTRACT

Duplication of chromosome 7q has been reported as either partial or complete. Partial 7q duplication was first described by Carpentier in 1972. Pure partial duplication of the long arm of chromosome 7 is extremely rare and only 16 cases with a pure partial duplication of different 7q segment have been described in the literature. Pure partial duplication of the long arm of chromosome 7 is characterized by growth and developmental retardation, muscular hypotonia, distinct craniofacial dysmorphic features, a short neck and skeletal abnormalities. A 3 month-old male was referred to our department of Pediatrics because of dyspnea, hypotonia and delayed development. He shows growth and developmental delay, hypertelorism, a depressed nasal bridge, low set ears, a short neck and muscular hypotonia. Karyotype revealed 46, XY, dup(7)(q36q33) by GTC-banding. We report a case of a partial inverted duplication of chromosome 7q.