| Title | T-cell clonality and myelodysplasia without chromosomal fragility in a patient with features of Seckel syndrome. |
| Publication Type | Journal Article |
| Year of Publication | 2003 |
| Authors | Chanan-Khan A, Holkova B, Perle MAnn, Reich E, C Wu D, Inghirami G, Takeshita K |
| Journal | Haematologica |
| Volume | 88 |
| Issue | 5 |
| Pagination | ECR14 |
| Date Published | 2003 May |
| ISSN | 1592-8721 |
| Keywords | Abnormalities, Multiple, Adult, Bone and Bones, Bone Marrow, Chromosome Aberrations, Clone Cells, Craniofacial Abnormalities, Growth Disorders, Humans, Intellectual Disability, Male, Myelodysplastic Syndromes, Syndrome, T-Lymphocytes |
| Abstract | Seckel syndrome is a rare autosomal recessive disorder with characteristic craniofacial dysmorphism, skeletal defects, mental and prenatal growth retardation. About 50 cases have been reported in the literature. Hematologic abnormalities with associated chromosomal fragility have been noted in about 15% of the reported cases. We report a patient with Seckel syndrome with myelodysplastic features and clonal T-cells in the bone marrow but no evidence of chromosomal fragility. After 5 years of follow-up, this patient remains asymptomatic without any treatment and with stable peripheral blood counts. |
| Alternate Journal | Haematologica |
| PubMed ID | 12745283 |
Related Faculty:
Giorgio Inghirami, M.D.