title: 5q- syndrome in a child with slowly progressive pancytopenia: a case report and review of the literature.
abstract: 5q- syndrome is a rare myelodysplastic process occurring predominately in middle aged to elderly women. In children, myelodysplasia of all types is rare and 5q- syndrome is exceptionally rare. Only 6 cases of 5q- associated myelodysplasia have been reported in children and all 6 cases had blast counts >5% and/or additional cytogenetic abnormalities. We report a case of 5q- syndrome in a girl who presented with macrocytosis and intermittent pancytopenia at age 5. Cytogenetic studies at age 8 revealed a large interstitial deletion of chromosome 5q without other cytogenetic abnormalities. The patient was clinically stable until age 11, when she became transfusion dependent and severely neutropenic. Subsequently, she underwent a successful unrelated cord blood transplant. To our knowledge, this is the first reported pediatric case meeting the strict criteria for 5q- syndrome.
authors: Department of Pathology, Loma Linda University Medical Center, 11234 Anderson Street, Room 2151, Loma Linda, CA 92354, USA.
authors: Sean D
authors: SD
authors: Pitman
authors: Anthony
authors: A
authors: Victorio
authors: Edward
authors: E
authors: Rowsell
authors: Joan
authors: J
authors: Morris
authors: Jun
authors: J
authors: Wang