Clinical Characteristics of Patients With SD
| UPN . | Age* (y) . | Sex . | Metaphyseal Dysostosis . | Short Stature, <3 Percentile . | Blood Counts . | HbF . | Bone Marrow Morphology . | Cytogenetics . | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Cell . | G . | E . | Meg . | Blasts . | ||||||||
| 1 | 7 | M | No | Yes | N, A, T | 9.7 | ⇓ | ⇓ | n | ⇓ | <5% | 46XY,i(7q)[17] |
| 2 | 5 | M | No | Yes | N, A | 9.4 | ⇓ | d, l | n | n | 5% | 46XY,del(20q)[11]/46XY,i(7q)[2]/46XY[7] |
| 3 | 14 | M | Mild | Yes | N | <1 | ⇓ | ⇓ | n | ⇓ | <5% | 46XY |
| 4 | 16 | F | Mild | No | N, T | 1.1 | ⇓ | ⇓ | n | ⇓ | <5% | 46XX |
| 5 | 13 | F | Severe | Yes | N, A | 3.1 | ⇓ | l | d | n | <5% | 46XX |
| 6 | 2 | M | No | No | N, A | 3.6 | ud | ⇓d, l | n | n | 5% | 46XY |
| 7 | 14 | F | ud | Yes | N, A, T | 1.7 | ⇓ | ⇓ | n | ⇓ | <5% | 46XX |
| 8 | 18 | M | Severe | Yes | N, A, T | 2.0 | ⇓ | ⇓ | n | ⇓ | <5% | 46XY |
| 9 | 6 | F | Moderate | Yes | N, A | 4.9 | ⇓ | n | n | ⇓ | <5% | 46XX |
| 10 | 1 | F | ud | Yes | N, A, T | 9.6 | ud | n | n | ud | <5% | 46XX |
| 11 | 8 | M | Moderate | Yes | N, T | 1.4 | ⇓ | ⇓ | n | n | <5% | 46XY |
| 12 | 2 | F | No | No | N | 2.8 | n | ⇓ | n | n | <5% | 46XX |
| 13 | 5 | M | No | Yes | N, A, T | ud | ⇓ | ⇓ | n | ⇓ | <5% | 46XY |
| UPN . | Age* (y) . | Sex . | Metaphyseal Dysostosis . | Short Stature, <3 Percentile . | Blood Counts . | HbF . | Bone Marrow Morphology . | Cytogenetics . | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Cell . | G . | E . | Meg . | Blasts . | ||||||||
| 1 | 7 | M | No | Yes | N, A, T | 9.7 | ⇓ | ⇓ | n | ⇓ | <5% | 46XY,i(7q)[17] |
| 2 | 5 | M | No | Yes | N, A | 9.4 | ⇓ | d, l | n | n | 5% | 46XY,del(20q)[11]/46XY,i(7q)[2]/46XY[7] |
| 3 | 14 | M | Mild | Yes | N | <1 | ⇓ | ⇓ | n | ⇓ | <5% | 46XY |
| 4 | 16 | F | Mild | No | N, T | 1.1 | ⇓ | ⇓ | n | ⇓ | <5% | 46XX |
| 5 | 13 | F | Severe | Yes | N, A | 3.1 | ⇓ | l | d | n | <5% | 46XX |
| 6 | 2 | M | No | No | N, A | 3.6 | ud | ⇓d, l | n | n | 5% | 46XY |
| 7 | 14 | F | ud | Yes | N, A, T | 1.7 | ⇓ | ⇓ | n | ⇓ | <5% | 46XX |
| 8 | 18 | M | Severe | Yes | N, A, T | 2.0 | ⇓ | ⇓ | n | ⇓ | <5% | 46XY |
| 9 | 6 | F | Moderate | Yes | N, A | 4.9 | ⇓ | n | n | ⇓ | <5% | 46XX |
| 10 | 1 | F | ud | Yes | N, A, T | 9.6 | ud | n | n | ud | <5% | 46XX |
| 11 | 8 | M | Moderate | Yes | N, T | 1.4 | ⇓ | ⇓ | n | n | <5% | 46XY |
| 12 | 2 | F | No | No | N | 2.8 | n | ⇓ | n | n | <5% | 46XX |
| 13 | 5 | M | No | Yes | N, A, T | ud | ⇓ | ⇓ | n | ⇓ | <5% | 46XY |
Abbreviations: UPN, unique patient number; Abnorm, abnormalities; HbF, fetal hemoglobin; Cell, cellularity; G, granulocyte count; E, erythrocyte count; Meg, megakaryocyte count; N, neutropenia (neutrophil concentration <1.5 × 109/L); A, anemia (hemoglobin concentration <2 SD adjusted for age35); T, thrombocytopenia (platelet count <150 × 109/L); ⇓, decreased; n, normal; l, left shift; ud, undetermined; d, dysplastic; un, unknown.
Age at the time of study.