T-cell clonality and myelodysplasia without chromosomal fragility in a patient with features of Seckel syndrome.

Asher Chanan-Khan, Beata Holkova, Mary Ann Perle, Elsa Reich, C. Daniel Wu, Giorgio Inghirami, Kenichi Takeshita

Research output: Contribution to journalArticle

13 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)ECR14
JournalHaematologica
Volume88
Issue number5
StatePublished - May 2003

ASJC Scopus subject areas

  • Hematology

Fingerprint Dive into the research topics of 'T-cell clonality and myelodysplasia without chromosomal fragility in a patient with features of Seckel syndrome.'. Together they form a unique fingerprint.

  • Cite this

    Chanan-Khan, A., Holkova, B., Perle, M. A., Reich, E., Wu, C. D., Inghirami, G., & Takeshita, K. (2003). T-cell clonality and myelodysplasia without chromosomal fragility in a patient with features of Seckel syndrome. Haematologica, 88(5), ECR14.