Interstitial deletion 13q: further delineation of the syndrome by clinical and high-resolution chromosome analysis of five patients

Abstract

Five patients with interstitial deletion 13q are reported. High-resolution chromosome banding established the diagnosis in two cases and stated the exact breakpoints in three remaining cases. All parents had normal chromosomes. An unequal and so far unexplained sex ratio of previously published and present cases was found: M:F = 1:2.75. Moderate to severe growth retardation was prominent in all patients. The patients were followed with psychological tests and growth data for 3-10 years. Mild to moderate mental retardation was present. Considerable phenotypic similarities were found in two patients with del(13)(q21.33 q31.3) and one with del(13)(q14.3q22.3). Repeat ophthalmological examinations showed no evidence of retinoblastoma in a male with del(13)(q13.1q21.1). In conclusion, the long-term study of five patients with interstitial deletion 13q, all evaluated with high-resolution banding, contributed to a more reliable mental and growth prognosis in such patients.