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B‐Acute lymphoblastic leukemia and cystinuria in a patient with duplication 22q11.21 detected by chromosomal microarray analysis
Author(s) -
Chang Vivian Y.,
QuinteroRivera Fabiola,
Baldwin Erin E.,
Woo Kathy,
MartinezAgosto Julian A.,
Fu Cecilia,
Gomperts Brigitte N.
Publication year - 2011
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.22909
Subject(s) - gene duplication , medicine , lymphoblastic leukemia , blood cancer , microarray , bioinformatics , genetics , leukemia , cancer , gene , biology , gene expression
Duplication 22q11.2 syndrome is the result of a microduplication of the same chromosomal region that is deleted in DiGeorge and Velocardiofacial syndromes. We describe a patient with dysmorphic features who was diagnosed with pre‐B acute lymphoblastic leukemia, and developed cystinuria and pancreatitis during treatment. Duplication 22q11.2 has not been previously described in association with hematologic abnormalities. Chromosomal microarray technology was used to diagnose duplication 22q11.2 syndrome. In this era of advanced genomics, this technology has become an important method for helping to determine the molecular basis of diseases, best treatments and ultimately patient outcomes. Pediatr Blood Cancer 2011;56:470–473. © 2010 Wiley‐Liss, Inc.