Table 1 Karyotypes, FISH and CGH results of the nine cases
Patient | Age (1st consultation) | Clinical manifestations | Karyotype | Final results |
|---|---|---|---|---|
1 | 2 years | Profound ID/DF/stereotypy/hypotonia/PDA/was operated for ectopic testis | 47XY+mar | 47XY+mar.ish der(18)(p11.1)(wcp18+TGIF++).arr [hg18]18p11.1(364344_14378636) × 4 dn |
2 | 6 years | GR/ID/DF/stereotypy/Strabismus/DD | 47XX+mar | 47XX+mar.ish der(18)(p11.1)(D18Z1+TGIF++).arr [hg18]18p11.1(364344_14584416) × 4 dn |
3 | 2 years | GR/ID/DF/DD/MC/single palmar crease | 46XX [2]/47XX+mar[18] | 47,XX,+mar.ish der(18)(p11.1)(D18S552++D18Z1+).arr [hg18]18p11.1(364344_13721571) × 3~4 mat |
4 | 2 years | GR/DF/moderate developmental delay/unexplained laughter | 47XY+mar | 47XY+mar.ish der(18)(p11.1)(D18S552++D18Z1+).arr [hg18]18p11.1(364344_14763575) × 4 dn |
5 | 1 year | GR/DF/strabismus /SSL/PVS/skin problems/ seizure | 47XX+mar | 47XX+mar.ish der(18)(p11.1)(D18S552++D18Z1+).arr [hg18]18p11.1(364344_14763575) × 4 dn |
6 | 5 months | GR/DF/horizontal palpebral fissures/total lack of language/axial and primary hypertension/single palmar crease/Skin problem/hypospadias/IVC | 47XY+mar | 47XY+mar.ish der(18)(p11.1)(D18S552++D18Z1+).arr [hg18]18p11.1(364344_14091582) × 4 dn |
7 | 2 years | ID/FD/clubfeet/pelvicalyceal dilatation/ectopic testis | 47XY+mar | 47XY+mar.ish der(18)(p11.1)(D18S552++D18Z1+).arr [hg18]18p11.1(364344_14918854) × 4 dn |
8 | 3 months | FD, DD, MC corpus callosum hypoplasia | 47XY+mar | 47XY+mar.ish der(18)(p11.1)(Subtel18pter++D18Z1+).arr [hg19]18p11.1(198111_14928854) × 4 dn |
9 | 10 years | FD, Obese, ID | 47XX+mar | 47XY+mar.ish der(18)(p11.1)(Subtel18pter++D18Z1+).arr [hg19]18p11.1(14316_14773575) × 4 dn |