Interstitial Deletion of Chromosome 10 with Microgenitalia and Gynecomastia

概要

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We describe an 18 year old male with an interstitial deletion of the long arm of chromosome 10 : del (10) (q11.23 q22.1) and abnormal sexual development. This was characterized by dysplasia of the genital organs, absence of axillary hair and sparse pubic hair and a female like physique with bilateral gynaecomastia. Other clinical findings included severe mental retardation and minor anomalies, both of which were consistent with other reports. A review of the literature revealed 12 other cases of interstitial deletion of chromosome 10,3 of which exhibited features of abnormal male sexual development. We conclude that there is an association between chromosome 10 and abnormal male sex development.