INTERMITTENT 20q- AND CONSISTENT i(7q) IN A PATIENT WITH SHWACHMAN-DIAMOND SYNDROME
Abstract
Shwachman Diamond syndrome (SDS) is a genetic disorder characterized by pancreatic hypoplasia, recurrent infection and bone marrow dysfunction. Some cases have an abnormality of chromosome 7, such as isochromosome 7q (i(7q)), which may be associated with the development of leukemia. We present a boy who was diagnosed with SDS at 19 months of age. From age 5-14 years, bone marrow cytogenetics has shown a consistent abnormality - i(7q), with an...
Paper Details
Title
INTERMITTENT 20q- AND CONSISTENT i(7q) IN A PATIENT WITH SHWACHMAN-DIAMOND SYNDROME
Published Date
Jan 1, 2002
Volume
19
Issue
7
Pages
525 - 528
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