[Monosomy r(13). Report of a new case].

Abstract

We report a new case of monosomy r13 in a male newborn infant with prenatal diagnosis. He was the fourth child of a healthy couple of normal lineage. On physical examination typical dysmorphism and multiple congenital anomalies were found. Chromosome analysis revealed a 46, XY, r(13) (p11.2q32) /45, XY,13 karyotype. Our observations are almost identical to those of previously published reports and confirm that the clinical severity of the symptoms depends on the location of the chromosome breakpoint. The clinical and cytogenetics features of this disorder are reviewed.