Table 1 |
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Cytogenetic finding and clinical data in 5 prenatal cases with a supernumerary der(20). |
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Case |
Age |
Karyotype |
Cell system Mosaic finding in % |
Clinical finding |
Reference |
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|
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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.::)/ 47,XY,+min(20)(:p12.1-> q11.1::q11.1->p12.1:) de novo |
Amnyocytes (75:25%) |
Normal psychomotor development |
Present investigation |
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|
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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 |
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|
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3 |
20 months |
46,XY/47,XY,+der(20 de novo |
Amniocytes (20:80%) |
Normal psychomotor development |
Viersbach et al 1997 |
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|
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4 |
16 months |
46,XY,/47,XY, +r(20)/47,XY,+20/48,XY,+2r(20) |
Amniocytes (10,5:44,7:44,7:0%) Chorionic villi (5,5:16,5:78,0:0%) Amnion (0:36,0:64,0:0%) Skin (16,7:80,6:1,6:1,1%) Cord blood (13,7:86,3:0:0%) |
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 |
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5 |
6 months |
46,XY/47,XY,+der(20) de novo |
Amniocytes (75:15%) |
Normal psychomotor development |
Cotter et al 2005 |
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Kitsiou-Tzeli et al. Molecular Cytogenetics 2009 2:1 doi:10.1186/1755-8166-2-1 |
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