Constitutional chromosomal abnormalities reported in association with Wilms tumour on one occasion
| Abnormality | No of cases | Further details of cytogenetic abnormality | Other clinical features | References | ||
|---|---|---|---|---|---|---|
| *Case identified through UKCCSG investigation of Wilms tumour genes study. | ||||||
| LOH, loss of heterozygosity. | ||||||
| t(1;16)(p22;p13.2) | 1 | Apparently balanced | Unilateral Wilms tumour | 141 | ||
| del(1)(p36pter) | 1 | Unilateral Wilms tumour | Unpublished* | |||
| del(1)(p36.1pter) dup (1)(q24qter) | 1 | De novo mosaic unbalanced t(1;1)(p36.1;q23); present in 9/40 amniocytes, 7/96 normal kidney cells and all tumour cells examined | Bilateral Wilms tumour; congenital cardiac malformations, agenesis of corpus callosum, facial dysmorphism, hypopigmented skin lesions, developmental delay | 195 | ||
| dup(1)(q2?2q2?3) | 1 | 196 | ||||
| t(1;7)(q42;p15) | 1 | De novo, apparently balanced; translocation interrupts PTH-B1 at 7p and Obscurin at 1q; monsomy 7p, trisomy 7q in tumour | Unilateral Wilms tumour; nephrogenic rest in contralateral kidney, multiple skeletal abnormalities, transient thrombocytopenia | 197 | ||
| del(2)(p11.2p12) | 1 | Maternally inherited; 7.5 Mb deletion | Speech delay, mild dysmorphic features | 198 | ||
| t(5;6)(q21;q21) | 1 | De novo, apparently balanced | Bilateral synchronous Wilms tumours | 199 | ||
| t(7;19)(q11.2;q13.3) | 1 | De novo, apparently balanced | Bilateral synchronous Wilms tumours; enlarged cisterna magnal, thick corpus callosum, facial dysmorphism | 200 | ||
| t(7;13)(q36;q13) | 1 | De novo, apparently balanced; paternal in origin | Unilateral Wilms tumour; facial dysmorphism, hydrocephalus, developmental delay, umbilical hernia, bilateral inguinal herniae with testicular ectopia | 201 | ||
| 8p+ | 1 | Additional material of unknown origin on 8p; possible 8p duplication | Single kidney | 141 | ||
| del(9)(q22q31) | 1 | De novo, deletion includes PTCH; PTCH expression increased in tumours | Synchronous rhabdomyosarcoma | 202 | ||
| t(9;12)(q22.3;q15) | 1 | De novo, apparently balanced | 203 | |||
| del(11)(q14.1q21) | 1 | De novo | Horseshoe kidney; perilobar nephrogenic rests | 204 | ||
| del(12)(q11q13.1) | 1 | De novo, paternal in origin; no LOH at 12q in tumour | Unilateral Wilms tumour; growth delay, developmental delay, facial dysmorphism | 205 | ||
| dup(12)(q24.3qter) del(22)(q13.3qter) | 1 | Maternally inherited unbalanced t(12;22)(q24.33;q13.31) | Unilateral Wilms tumour; developmental delay, overgrowth | 206 | ||
| Tetrasomy 15q24.3-qter | 1 | Mosaic abnormality in lymphocytes: 68% intrachromosomal triplication 15q24-qter; 7% inverted duplication 15q24.3-qter fused to 3qter; 25% normal | Unilateral Wilms tumour; intellectual impairment, body asymmetry, arachnodactyly, facial dysmorphism | 207 | ||
| Tetrasomy 15q25.3-qter | 1 | Supernumerary marker chromosome present in | Bilateral synchronous Wilms tumours; apparent Shprintzen-Goldberg syndrome: macrosomia, long digits, craniosynostosis | 208 | ||
| 19/20 lymphocytes and all tumour cells examined | ||||||
| Ring chromosome of unknown origin | 2 | Mother and two affected children harboured ring chromosome of unknown origin | Two siblings affected with Wilms tumour: one was affected unilaterally, the other bilaterally | 209 | ||