Document Detail

T-cell clonality and myelodysplasia without chromosomal fragility in a patient with features of Seckel syndrome.
MedLine Citation:
PMID:  12745283     Owner:  NLM     Status:  MEDLINE    
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.
Asher Chanan-Khan; Beata Holkova; Mary Ann Perle; Elsa Reich; C Daniel Wu; Giorgio Inghirami; Kenichi Takeshita
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Haematologica     Volume:  88     ISSN:  1592-8721     ISO Abbreviation:  Haematologica     Publication Date:  2003 May 
Date Detail:
Created Date:  2003-05-14     Completed Date:  2003-06-06     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0417435     Medline TA:  Haematologica     Country:  Italy    
Other Details:
Languages:  eng     Pagination:  ECR14     Citation Subset:  IM    
Department of Medicine, Bellevue Hospital Center and New York University School of Medicine, New York, NY 10016, USA.
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MeSH Terms
Abnormalities, Multiple / diagnosis*
Bone Marrow / pathology
Bone and Bones / abnormalities
Chromosome Aberrations
Clone Cells
Craniofacial Abnormalities / diagnosis
Growth Disorders / diagnosis
Mental Retardation / diagnosis
Myelodysplastic Syndromes / diagnosis*,  pathology
T-Lymphocytes / immunology*

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