Table 2 Phenotypic characteristics of patients included in this study, sorted by cases with copy number variants (CNVs) and other mutations
From: The clinical impact of copy number variants in inherited bone marrow failure syndromes
Patients with CNVs | Patients with other mutations | p-value | |
|---|---|---|---|
(n = 19) | (n = 157) | ||
Sex (females, %) | 7 (36.8%) | 76 (48.4%) | p = 0.5 |
Median age at presentation (IQR) | 1 month (1–14) | 5 months (1–41) | p = 0.1 |
Median age at diagnosis (IQR) | 14 months (2–78) | 24 months (5–88.25) | p = 0.2 |
Median age at last follow up (IQR) | 12.6 years (6.5–16.7) | 12.2 years (7–18) | p = 0.6 |
Severe anemia (n, %) | 9 (50%) | 64 (46.4%) | p = 0.8 |
NA (n) | 1 | 19 | |
Severe neutropenia (n, %) | 5 (35.7%) | 56 (41.8%) | p = 0.8 |
NA (n) | 5 | 23 | |
Severe thrombocytopenia (n, %) | 5 (31.3%) | 18 (13.3%) | p = 0.07 |
NA (n) | 3 | 22 | |
Severe aplastic anemia (n, %) | 4 (21.1%) | 33 (21%) | p = 1.0 |
NA (n) | 0 | 0 | |
MDS/ AML (n, %) | 5 (26.3%) | 26 (16.7%) | p = 0.3 |
NA (n) | 0 | 1 | |
Median number of non-hematological systems involved (IQR) | 6 (3.75–8) | 3 (1–5) | p = 0.0006 |
Developmental delay (n, %) | 11 (61.1%) | 40 (27.4%) | p = 0.006 |
NA (n) | 1 | 11 | |
Short stature (n, %) | 12 (66.7%) | 59 (40.1%) | p = 0.04 |
NA (n) | 1 | 10 |
