boy 4 years old (Hydronephrosis)
Result :46,XY,dup(10)(p13.2)dn
Note: Clinical manifestations in patients with this duplication usually include a delay in psychomotor development and some behavioral problems, usually considered as autistic features or pervasive developmental disorder. Several patients had seizures. Organ defects were reported only once
It should be noted that in at least eight families, the same duplication was found in one of the healthy parents of the affected individual.in that context, it is still unclear, whether this reflects “incomplete penetrance” of the pathologic duplication or some additional(and yet unknown factors) are necessary to produce a negative outcome for persons with a "benign” duplication. Sporadic occurrence of the duplication increases the chance considering this aberration as a pathologic one. Cytogenetic examination of the parents seems to be necessary for counseling regarding further
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