Partial trisomy 8q in half-sisters with distinct dysmorphic patterns not similar to the trisomy 8 mosaicism syndrome

Abstract

Two cases of partial trisomy 8q are presented. Common clinical features included severe mental and physical retardation, a prominent and short forehead, widely set mongoloid eyes, broad, flat nose with short septum, short upper lip, misshapen ears, a funnel chest, hypertrichosis of the back, coxa valga, and short fingers with brachymesophalangy and clinodactyly of the little fingers. Moreover, Case 1 had a frontal meningocele and bilateral talipes equinovarus, and Case 2 had a ventricular septal defect. The chromosome aberration in the two girls arose from a maternal balanced translocation, t(8;18) (q2309;p113). Since the major clinical features of mosaic trisomy 8 are absent in the two girls and in other cases of partial trisomy, both for the distal segment of the long arm and for the short arm of chromosome 8, it is concluded that trisomy of the proximal part of the long arm of chromosome 8 causes most of the clinical findings of trisomy 8 mosaicism syndrome.