NIJMEGEN BREAKAGE SYNDROME
https://doi.org/10.15690/pf.v9i3.331
Abstract
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive syndrome of chromosomal instability mainly characterized by microcephaly at birth, dysmorphic facial features, combined immunodeficiency and predisposition to malignancies. Due to a founder mutation in the underlying NBN gene (c.657_661del5) the disease is encountered most frequently among Slavic populations. We report on a patient with NBS complicated acute leukemia.
About the Authors
M. Y. Kagan
Orenburg Regional Children’s Hospital
Russian Federation
Russian Federation
N. S. Shulakova
Orenburg Regional Children’s Hospital
Russian Federation
Russian Federation
R. A. Gumirova
Orenburg Regional Children’s Hospital
Russian Federation
Russian Federation
E. A. Zlodeeva
Orenburg Regional Children’s Hospital
Russian Federation
Russian Federation
N. V. Resnick
Orenburg Regional Children’s Hospital
Russian Federation
Russian Federation
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Review
For citations:
Kagan M.Y., Shulakova N.S., Gumirova R.A., Zlodeeva E.A., Resnick N.V. NIJMEGEN BREAKAGE SYNDROME. Pediatric pharmacology. 2012;9(3):102-105. (In Russ.) https://doi.org/10.15690/pf.v9i3.331
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