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Table 1 Cytogenetic finding and clinical data in 5 prenatal cases with a supernumerary der(20).

From: Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male

Case Age Karyotype Cell system Mosaic finding in % Clinical finding Reference
1 8 months 46,XY/47,XY, +r(20)(::p12.2~12.3->q11.::)/
47,XY, +r(20)(::p12.1->
q11.1::q11.1->p12.1:) de novo
Normal psychomotor development Present investigation
2 20 months 46,XY/47,XY,+r(20 de novo Amniocytes (20:80%)
Cord bllod (91:9%)
Normal psychomotor development Viersbach et al 1997
3 20 months 46,XY/47,XY,+der(20 de novo Amniocytes (20:80%) Normal psychomotor development Viersbach et al 1997
4 16 months 46,XY,/47,XY, +r(20)/47,XY,+20/48,XY,+2r(20) Amniocytes
Chorionic villi
Cord blood
Delayed psychomotor development, height and below 3rd centile, hypotonia, asymmectric triangular face, prominent forehead, bulbous nose with slightly upturned tip, hypoplastic short philtrum, small mouth, high palate, micro- and retrognathia, abnormal ears, proximally placed adducted thumbs, clinodactyly lymphedema on the dorsa of feet, abnormal position of toes, prominent heels, increased skin elasticity, hyperextensible joints Batista et al 1995
5 6 months 46,XY/47,XY,+der(20) de novo Amniocytes
Normal psychomotor development Cotter et al 2005