Skip to main content


Table 1 Karyotypes, FISH and CGH results of the nine cases

From: Clinical and molecular findings in nine new cases of tetrasomy 18p syndrome: FISH and array CGH characterization

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
  1. Abbreviations: ID Intellectual Disabilities, GR Growth Retardation, DD Developmental Delay, DF Dysmorphic features, MC microcephaly, SSL Situs Solitus Levocardie, PVS Pulmonary valve stenosis, IVC Inter-ventricular Communication, PDA Patent ductus arteriosus