- IUGR with a birth weight >2 SD below the mean.
- Postnatal growth >2 SD below the mean for length.
- Proportional short stature with preservation of occipitofrontal head circumference.
- Facial features include prominent forehead, small triangular face & narrow chin.
- Limb, body, or facial asymmetry.
- Additional features that can be diagnostically helpful include fifth finger clinodactyly, brachydactyly, cafe au lait spots, and arm span less than height.
- Price, S. M.; Stanhope, R.; Garrett, C.; Preece, M. A.; Trembath, R. C.: The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria. J. Med. Genet. 36: 837-842, 1999.
- Gicquel, C.; Rossignol, S.; Cabrol, S.; Houang, M.; Steunou, V.; Barbu, V.; Danton, F.; Thibaud, N.; Le Merrer, M.; Burglen, L.; Bertrand, A.-M.; Netchine, I.; Le Bouc, Y. Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. Nature Genet. 37: 1003-1007, 2005.
- Eggermann, T.; Schonherr, N.; Meyer, E.; Obermann, C.; Mavany, M.; Eggermann, K.; Ranke, M. B.; Wollmann, H. A. :Epigenetic mutations in 11p15 in Silver-Russell syndrome are restricted to the telomeric imprinting domain. (Letter) J. Med. Genet. 43: 615-616, 2006.
- Individuals with a clinical diagnosis of RSS.
- Individuals with limb asymmetry combined with prenatal and postnatal growth delay.
Detection and Reference Range
Hypomethylation of H19 is expected to detect up to 35% of individuals with a clinical diagnosis of SRS. Maternal uniparental disomy (UPD) for chromosome 7 will be detected in an additional 10% of patients with a clinical diagnosis, for a total detection of up to 45%.
Normal methylation range of H19 was determined by quantifying DNA methylation in a cohort of normal individuals (see Coffee et al. Genet Med. 8:628-634 2006). The mean methylation index (MI; the amount of methylated DMR1 DNA divided by methylated and unmethylated DMR1 DNA) was 0.49 with a standard deviation of 0.08, resulting in normal MI range of 0.33-0.65 (mean 2 standard deviations).
Submit only 1 of the following specimen types
Preferred specimen type: Whole Blood
Type: Whole Blood
Specimen Requirements:In EDTA (purple top) tube:
Infants (<2 years): 2-3 ml
Children (>2 years): 3-5 ml
Older Children & Adults: 5-10 ml
Specimen Collection and Shipping: Refrigerate until time of shipment. Ship sample within 5 days of collection at room temperature with overnight delivery.
Specimen Requirements:OrageneTM Saliva Collection kit (available through EGL) used according to manufacturer instructions.
Specimen Collection and Shipping: Store sample at room temperature. Ship sample within 5 days of collection at room temperature with overnight delivery.
- Standard Blood Chromosome Analysis (Test Codes: CA, CB) and EmArray Cyto (Test Code: VA) are available for children with growth and developmental delay.