| 1 | 2 | 1 | Trisomy 1q32.1-42.1 | | None | | 79 | |
| | 1 | Dup 1q42-qter | | None | | 80 | |
| 8 | 1 | 1 | Del 8q11-q12 | | Microcephaly, shallow supraorbital ridges, hypoplastic alae nasi | | 81 | |
| 15 | 3 | 1 | r15 | | Mental retardation, cardiac defects | | 82 | IGF1R coding for the IGF-1 receptor in most tissues. The receptor is an important component of the growth hormone IGF axis in both pre- and postnatal growth. However, extensive studies of IGF1R in SRS patients has failed to show any mutations85–87 |
| | 1 | r15 (p12q26.3) | | Mental retardation, microcephaly | | 83 |
| | 1 | Trisomy7q34-qter; monosomy 15q26.3-qter | | Bilateral congenital glaucoma | | 84 |
| 17 | 3 | 1 | t(17;20)(q25;q13) | | None | | 88 | A putative candidate gene in this region is chorionic somatomammotropin 1 (CSH1) which was deleted in two SRS patients.91 92 Growth factor receptor binding protein (GRB) 2 (17q24-25) and 7 (17q21-22) are also localised to this breakpoint. However, Hitchins et al93 investigated CSH1, GRB2 and GRB7 in 48 non-UPD 7 SRS patients with no abnormal findings |
| | | t(1;17)(q31;q25) | | None | | 89 |
| | 1 | Hypomethylation at 11p15 plus deletion of CSH1 | | None | | 90 |
| 18 | 3 | 1 | Trisomy 18 | | Many extra features of trisomy 18 syndrome, mental retardation | | 94 | |
| | 1 | Trisomy 18 | | None | | 95 | |
| | 1 | del 18p | | | | 96 | |
| X | 2 | 1 | 45X right side | | None | | 97 | Partington et al99 described a family with short stature and abnormal pigmentation with symptoms more pronounced in males suggesting X-linked inheritance. Younger male siblings showed classical SRS features |
| | 2 | 45X/45XXY left side | | | | 98 |
| | | 47XXY | | | | |