[Trisomy 20p derived from a maternal pericentric inversion and brachymesophalangy of the index finger].
The article brings to light the very first case of trisomy 20p resulting from a maternal pericentric inversion in a 2 1/2-year old boy. The study outlines the characteristic clinical features of the syndrome, i.e. round face, upslanting palpebral fissures, microretrognathia, normal growth, slight psycho-motor retardation and congenital heart defects. The association of the der(20) inv(20) (p112q133) mat and brachymesophalangy of index ("Mohr-Wriedt" type of brachydactyly) enables the authors to suggest that chromosome 20 may be held responsible for this particular malformation.
D002675:Child, Preschool; D007446:Chromosome Inversion; D002903:Chromosomes, Human, 19-20; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D010641:Phenotype; D014034:Toes / Q000002:abnormalities; D014314:Trisomy
Trisomie 20p dérivée d'une inversion péricentrique maternelle et brachymésophalangie de l'index.