Table 1. Summary of the microsatellite and SNP array data obtained for the siblings and their parents.
| III-16 father | III-21 mother | IV-13 son | IV-14 daughter | |||||
|---|---|---|---|---|---|---|---|---|
| Chromosome 18 markersa /region | MS | SNP | MS | SNP | MS | SNP | MSb | SNP |
| 18pter (0 Mb) | — | No copy number abnormalities | — | No copy number abnormalities | — | Deletion of the maternal allele | — | Maternal (h)UPD, no indication for isodisomy |
| D18S498 (p11.32, 0.934 Mb) | b, c | a, b | c: mat. del. | a, b (mat hUPD) | ||||
| D18S481 (p11.31, 3.05 Mb) | a, c | b, c | a: mat. del. | b, c (mat hUPD) | ||||
| D18S63 (p11.31, 3.43 Mb) | a, d | b, c | a: mat. del. | b, c: mat hUPD | ||||
| D18S54 (p11.31, 3.65 Mb) | b, b | a, c | b: mat. del. | a, c: mat hUPD | ||||
| 18p11.31 (4.700 Mb) | — | — | — | — | ||||
| p11.31-centromere-q21.33 | — | — | — | Biparental inheritance | — | Biparental inheritance | ||
| 18q21.33 (59.275 Mb) | — | — | — | Duplication of the maternal allele | — | Paternal (h)UPD, no indication for isodisomy | ||
| D18S386 (q22.1, 63.94 Mb) | a, b | a, b | a, b, b: dup. | a, b (pat hUPD) | ||||
| D18S390 (q22.3, 67.53 Mb) | a, b | a, a | a, a | a, b (pat hUPD) | ||||
| D18S1009 (q23, 72.19 Mb) | c, d | a, b | b, b, c: mat. dup. | c, d: pat hUPD | ||||
| D18S844 (q23, 72.48 Mb) | a, c | b, c | b, b, c: mat. dup. | a, c (pat hUPD) | ||||
| D18S554 (q23, 73.17 Mb) | a, b | a, a | a, a | a, b (pat hUPD) | ||||
| 18q23 (74.133 Mb) | — | — | — | — | ||||
| Paternal iUPD | ||||||||
| 18q23 (75.493 Mb) | — | — | — | — | ||||
Abbreviations: hUPD, heterodisomy; iUPD, isodisomy; mat. del., maternal origin of the deletion; mat. dup., maternal origin of the duplication; MS, results obtained by microsatellite analysis; SNP, results obtained by SNP arrays.
a
The following microsatellite markers were not informative: D18S59, D18S459, D18S1154, D18S391, D18S453, D18S819, D18S877, D18S57, D18S1162, D18S535, D18S978, D18S858, D18S61, D18S461, D18S70.
b
In brackets: inferred interpretation.