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

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

Research output: Contribution to journalArticle

12 Citations (Scopus)

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)
JournalHaematologica
Volume88
Issue number5
StatePublished - May 2003
Externally publishedYes

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Chromosome Fragility
T-Lymphocytes
Myelodysplastic Syndromes
Bone Marrow
Growth
Therapeutics

ASJC Scopus subject areas

  • Hematology

Cite this

Chanan Khan, A. 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).

T-cell clonality and myelodysplasia without chromosomal fragility in a patient with features of Seckel syndrome. / Chanan Khan, Asher A; Holkova, Beata; Perle, Mary Ann; Reich, Elsa; Wu, C. Daniel; Inghirami, Giorgio; Takeshita, Kenichi.

In: Haematologica, Vol. 88, No. 5, 05.2003.

Research output: Contribution to journalArticle

Chanan Khan, AA, Holkova, B, Perle, MA, Reich, E, Wu, CD, Inghirami, G & Takeshita, K 2003, 'T-cell clonality and myelodysplasia without chromosomal fragility in a patient with features of Seckel syndrome.', Haematologica, vol. 88, no. 5.
Chanan Khan, Asher A ; Holkova, Beata ; Perle, Mary Ann ; Reich, Elsa ; Wu, C. Daniel ; Inghirami, Giorgio ; Takeshita, Kenichi. / T-cell clonality and myelodysplasia without chromosomal fragility in a patient with features of Seckel syndrome. In: Haematologica. 2003 ; Vol. 88, No. 5.
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