Table 3

‚ÄÉConstitutional chromosomal abnormalities reported in association with Wilms tumour on one occasion

AbnormalityNo of casesFurther details of cytogenetic abnormalityOther clinical featuresReferences
*Case identified through UKCCSG investigation of Wilms tumour genes study.
LOH, loss of heterozygosity.
t(1;16)(p22;p13.2)1Apparently balancedUnilateral Wilms tumour141
del(1)(p36pter)1Unilateral Wilms tumourUnpublished*
del(1)(p36.1pter) dup (1)(q24qter)1De novo mosaic unbalanced t(1;1)(p36.1;q23); present in 9/40 amniocytes, 7/96 normal kidney cells and all tumour cells examinedBilateral Wilms tumour; congenital cardiac malformations, agenesis of corpus callosum, facial dysmorphism, hypopigmented skin lesions, developmental delay195
t(1;7)(q42;p15)1De novo, apparently balanced; translocation interrupts PTH-B1 at 7p and Obscurin at 1q; monsomy 7p, trisomy 7q in tumourUnilateral Wilms tumour; nephrogenic rest in contralateral kidney, multiple skeletal abnormalities, transient thrombocytopenia197
del(2)(p11.2p12)1Maternally inherited; 7.5 Mb deletionSpeech delay, mild dysmorphic features198
t(5;6)(q21;q21)1De novo, apparently balancedBilateral synchronous Wilms tumours199
t(7;19)(q11.2;q13.3)1De novo, apparently balancedBilateral synchronous Wilms tumours; enlarged cisterna magnal, thick corpus callosum, facial dysmorphism200
t(7;13)(q36;q13)1De novo, apparently balanced; paternal in originUnilateral Wilms tumour; facial dysmorphism, hydrocephalus, developmental delay, umbilical hernia, bilateral inguinal herniae with testicular ectopia201
8p+1Additional material of unknown origin on 8p; possible 8p duplicationSingle kidney141
del(9)(q22q31)1De novo, deletion includes PTCH; PTCH expression increased in tumoursSynchronous rhabdomyosarcoma202
t(9;12)(q22.3;q15)1De novo, apparently balanced203
del(11)(q14.1q21)1De novoHorseshoe kidney; perilobar nephrogenic rests204
del(12)(q11q13.1)1De novo, paternal in origin; no LOH at 12q in tumourUnilateral Wilms tumour; growth delay, developmental delay, facial dysmorphism205
dup(12)(q24.3qter) del(22)(q13.3qter)1Maternally inherited unbalanced t(12;22)(q24.33;q13.31)Unilateral Wilms tumour; developmental delay, overgrowth206
Tetrasomy 15q24.3-qter1Mosaic abnormality in lymphocytes: 68% intrachromosomal triplication 15q24-qter; 7% inverted duplication 15q24.3-qter fused to 3qter; 25% normalUnilateral Wilms tumour; intellectual impairment, body asymmetry, arachnodactyly, facial dysmorphism207
Tetrasomy 15q25.3-qter1Supernumerary marker chromosome present inBilateral synchronous Wilms tumours; apparent Shprintzen-Goldberg syndrome: macrosomia, long digits, craniosynostosis208
19/20 lymphocytes and all tumour cells examined
Ring chromosome of unknown origin2Mother and two affected children harboured ring chromosome of unknown originTwo siblings affected with Wilms tumour: one was affected unilaterally, the other bilaterally209