Table 1.

Summary of clinical findings in children with 13q deletion and renal involvementa

PatientCurrent AgeGenderAge at DiagnosisKaryotypeKidney AbnormalitiesOther Abnormalities
117F12 yr46, XX, del(13)q32.3VUR (grade 5), renal dysplasia, ESRDMild developmental delay, seizures
25F8 mo46, XX, del(13)q33q34VUR (grade 5), mild renal failure, recurrent UTINeurodevelopmental delay, hypotonia; seizures
313F5 wk46, XX, del(13)q32q34Hydronephrosis, hydroureter, small kidneys, recurrent UTI, hematuria and proteinuriaAbnormal anal opening (anteriorly placed), constipation, spinal curvature, hemivertebrae, cognitive delay, neurodevelopmental delay
  • a VUR, vesico-ureteric reflux;UTI, urinary tract infection.