Table 1.
Uniparental disomy (UPD) cohort complete description
| Case | Chromosome | Type | Inheritance | Array | Phenotypes | Medically relevant UPD | MIE | ROH | Previously reported UPD |
|---|---|---|---|---|---|---|---|---|---|
| Validation samples | |||||||||
| V1 | 1 | iUPD | Pat | Y | Mild ID, epilepsy, attention deficit–hyperactivity disorder, clumsy walking | UUS | Y | Y | Y |
| V2 | 2 | mixUPD | Mat | Y | Intrauterine fetal demise, skeletal dysplasia | UUS | Y | NA | Y |
| V3 | 3 | segUPD | Mat | Y | Patella aplasia, radioulnar synostosis, brachydactyly | UUS | Y | Ya | Y |
| V4 | 8 | segUPD | Mat | Y | Developmental and speech delay, ptosis | Y, RD | Y | Ya | Y |
| V5 | 10 | iUPD | Mat | Y | Severe ID, psychomotor delay, epilepsy, pontocerebellar hypoplasia | UUS | Y | Y | Y |
| V6 | 15 | iUPD | Mat | Y | Severe ID, speech delay, myopia, scoliosis | Y, IP | NA | Y | Y |
| V7 | 16 | mixUPD | Mat | Y | Esophagus atresia, tracheoesophageal fistula, aortic stenosis | UUS | Y | NA | Y |
| V8 | 22 | mixUPD | Mat | Y | Mild ID, small height, low weight | Y, RD | Y | NA | Y |
| New findings | |||||||||
| N1 | 1 | iUPD | NA | N | Retinitis pigmentosa (clinical diagnosis of Stargardt disease) | UUS | NA | Y | N |
| N2 | 1 | iUPD | NA | N | Unilateral enlarged vestibular aqueduct | UUS | NA | Y | N |
| N3 | 2 | iUPD | NA | N | Limb girdle myopathy | UUS | NA | Y | N |
| N4 | 4 | iUPD | Pat | N | Severe ID, developmental and speech delay, epilepsy | UUS | Y | Y | N |
| N5 | 7 | iUPD | Mat | N | Cheilognathopalatoschisis, total anomalous pulmonary venous return | Y, IP | Y | Y | Y |
| N6 | 8 | iUPD | NA | N | Mild ID, low birth weight, autism, aggressive | UUS | NA | Y | N |
| N7 | 11 | segUPDb | NA | N | Microcephaly, developmental delay, seizures, stereotypic hand movement | NA | NA | Y | N |
| N8 | 12 | iUPD | NA | N | Parental sample of patient with muscle ES | UUS | NA | Y | N |
| N9 | 13 | segUPD | Mat | N | Intrauterine growth retardation, clenched hands, rockerbottom feet, horseshoe kidney, double system | Y, RD | Y | N | Y |
| N10 | 15 | segUPD | Pat | N | Moderate ID, speech delay, epilepsy, amblyopia, enamel defects | Y, IP | Ya | Y | N |
| N11 | 19 | iUPD | NA | N | Developmental delay, hypotonia (twin) | Y, IP | NA | Y | Y |
| N12 | 19 | iUPD | NA | N | Developmental delay, hypotonia (twin) | Y, IP | NA | Y | Y |
| N13 | 20 | iUPD | NA | N | NA | UUS | NA | Y | N |
| N14 | 22 | iUPD | NA | N | Endometrial, thyroid, sigmoid, breast, and kidney cancer | Y, RD | NA | Y | N |
ES exome sequencing, ID intellectual disability, IP imprinting disorders, iUPD uniparental isodisomy, MIE Mendelian inheritance errors method, mixUPD mixed uniparental hetero and isodisomy, N no, NA not applicable, RD recessive disorders, ROH region of homozygosity method, segUPD segmental UPD, UUS UPD of unknown significance, Y yes.
aLow p value.
bSuspected UPD as parent's sample is not available (thus explain NA medical relevance).