Table 1 Clinical features and molecular findings of the 13 individuals with IC1 microdeletions in our cohort
Individual | Family | Age | IC1 Methylation | Parent-of-origin of the Allele Harboring Deletion | Deletion Type | Breakpoints1 (Fused Repeat Blocks) | Clinical Information |
|---|---|---|---|---|---|---|---|
1 | 1 | 5 w | Hypermethylation | Maternal | 1.8-kb | 11:2,022,152–2,023,984 (B6/B3) | Increased birth weight, macroglossia, umbilical hernia |
2 | 36 y | Borderline hypermethylation | Maternal | Mother of Patient 1; increased birth weight, no additional features of BWS | |||
3 | 31 y | Hypermethylation | Maternal | Maternal uncle of Patient 1; clinical diagnosis of BWS, Wilms tumors | |||
4 | 64 y | Normal | Unknown2 | Maternal grandmother of Patient 1; unaffected | |||
5 | 2 | 15 m | Hypermethylation | Maternal | 1.8-kb | 11:2,022,100–2,023,933 (B6/B3) | Clinical diagnosis of BWS |
6 | 29 y | Normal | Unknown2 | Mother of Patient 5; no clinical information provided | |||
7 | 3 | 0 d | Hypermethylation | Maternal | 1.8-kb | 11:2,022,337–2,024,168 (B7/B3)3 | Macrosomia, organomegaly (kidneys), hypoglycemia; patient has a family history of BWS (mother and sister reportedly tested positive for IC1 microdeletion at an external institution; however, no clinical information or IC1 methylation status were provided) |
8 | 4 | 7 m | Hypermethylation | Unknown (de novo) | 1.4-kb | 11:2,022,160–2,023,591 (B5/B3) | Testing ordered by a pediatric oncologist; de novo (both parents tested negative for IC1 microdeletion) |
9 | 5 | 10 m | Hypermethylation | Unknown2 | 2.2-kb | 11:2,021,975–2,024,214 (B7/B3) | Early excess growth, macrosomia, organomegaly (kidneys, liver), facial dysmorphism, macroglossia |
10 | 6 | 70 y | Hypermethylation | Unknown2 | 2.2-kb | 11:2,021,616–2,023,855 (B6/B2) | Macroglossia, ear creases, rule out organomegaly |
11 | 7 | 0 d | Hypermethylation | Unknown2 | 1.8-kb | 11:2,022,337–2,024,168 (B7/B3)3 | No clinical information provided |
12 | 8 | 41 y | Hypermethylation | Unknown2 | 1.4-kb | 11:2,021,940–2,023,372 (B5/B3) | Clinical diagnosis of BWS, lower limb asymmetry, macroglossia, omphalocele, overgrowth, history of tumors/masses |
13 | 9 | 4 y | Borderline hypermethylation | Unknown2 | 2.2-kb | 11:2,021,718–2,023,957 (B6/B2) | Increased birth weight, hypotonia since birth, protruding tongue, large multi-focal left-sided renal mass, right upper lobe pulmonary nodule |