Hematologic characteristics of patients with Shwachman-Diamond syndrome at the time of the study
| UPN . | Age (y)/sex . | Blood counts . | Bone marrow cellularity . | Cytogenetics . |
|---|---|---|---|---|
| 1 | 7/M | N, A, T | ⇓ | 46XY,i(7q) |
| 3 | 14/M | N | ⇓ | 46,XY |
| 4 | 16/F | N, T | ⇓ | 46,XX |
| 5 | 13/F | N, A | ⇓ | 46,XX |
| 6 | 2/M | N, A | UA | 46,XY |
| 7 | 14/F | N, A, T | ⇓ | 46,XX |
| 8 | 18/M | N, A, T | ⇓ | 46,XY |
| 11 | 8/M | N, T | ⇓ | 46,XY |
| 12 | 2/F | N | n | 46,XX |
| 14 | 11/M | N, A, T | UA | 46,XY |
| 15 | 2/F | N, A, T | ⇓ | 46,XX |
| UPN . | Age (y)/sex . | Blood counts . | Bone marrow cellularity . | Cytogenetics . |
|---|---|---|---|---|
| 1 | 7/M | N, A, T | ⇓ | 46XY,i(7q) |
| 3 | 14/M | N | ⇓ | 46,XY |
| 4 | 16/F | N, T | ⇓ | 46,XX |
| 5 | 13/F | N, A | ⇓ | 46,XX |
| 6 | 2/M | N, A | UA | 46,XY |
| 7 | 14/F | N, A, T | ⇓ | 46,XX |
| 8 | 18/M | N, A, T | ⇓ | 46,XY |
| 11 | 8/M | N, T | ⇓ | 46,XY |
| 12 | 2/F | N | n | 46,XX |
| 14 | 11/M | N, A, T | UA | 46,XY |
| 15 | 2/F | N, A, T | ⇓ | 46,XX |
UPN indicates unique patient number; N, neutropenia (neutrophil concentration < 1.5 × 109/L); A, anemia (hemoglobin concentration < 2 SD below mean, adjusted for age)29; n, normal; T, thrombocytopenia (platelet count < 150 × 109/L); ⇓, decreased; UA, unavailable.