title: B-acute lymphoblastic leukemia and cystinuria in a patient with duplication 22q11.21 detected by chromosomal microarray analysis.
abstract: 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.
authors.affiliation: Division of Hematology-Oncology, David Geffen School of Medicine, University of California, Los Angeles, California, USA. vchang@mednet.ucla.edu
authors.forename: Vivian Y
authors.initials: VY
authors.lastname: Chang
authors.forename: Fabiola
authors.initials: F
authors.lastname: Quintero-Rivera
authors.forename: Erin E
authors.initials: EE
authors.lastname: Baldwin
authors.forename: Kathy
authors.initials: K
authors.lastname: Woo
authors.forename: Julian A
authors.initials: JA
authors.lastname: Martinez-Agosto
authors.forename: Cecilia
authors.initials: C
authors.lastname: Fu
authors.forename: Brigitte N
authors.initials: BN
authors.lastname: Gomperts
mesh_terms: D000970:Antineoplastic Agents / Q000627:therapeutic use; D014408:Biomarkers, Tumor / Q000235:genetics / Q000378:metabolism; D002648:Child; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D003555:Cystinuria / Q000188:drug therapy / Q000209:etiology*; D004062:DiGeorge Syndrome / Q000150:complications / Q000235:genetics; D005145:Face / Q000002:abnormalities; D020440:Gene Duplication; D020869:Gene Expression Profiling; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D010195:Pancreatitis / Q000188:drug therapy / Q000209:etiology*; D015452:Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / Q000188:drug therapy / Q000209:etiology*; D016896:Treatment Outcome
chemical_list: D000970:Antineoplastic Agents; D014408:Biomarkers, Tumor