Partial trisomy 15 in a male with severe psychomotor retardation (48,XY,+15q−, +mar(15))

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Abstract
An abnormal karyotype consisting of 48 chromosomes has been found in a 16‐year‐old boy with severe psychomotor retardation and congenital anomalies. The two extra chromosomes: a 15q− and a small metacentric marker appear as derivatives of chromosome 15 (48,XY, +15q−, +mar(15). The healthy father has a mosaic chromosome constitution 46,XY/47,XY, +mar(15) and this additional chromosome is also present in the propositus. It is suggested that the presence of the extra chromosome in the father's germ cells may play a role in the production of the additional 15q− chromosome responsible for the clinical syndrome of the propositus.