Diminutive somatic deletions in the 5q region lead to a phenotype atypical of classical 5q- Syndrome

Blood

Volumn 122, Issue 14, 2013, Pages 2487-2490

  Vlachos, Adrianna ^a,b   Farrar, Jason E ^c   Atsidaftos, Eva ^b   Muir, Ellen ^b   Narla, Anupama ^d,e,f   Markello, Thomas C ^g   Singh, Sharon A ^a,b   Landowski, Michael ^h   Gazda, Hanna T ^e,h   Blanc, Lionel ^a,b   Liu, Johnson M ^a,b   Ellis, Steven R ⁱ   Arceci, Robert J ^j,k   Ebert, Benjamin L ^d,e,f   Bodine, David M ^g   Lipton, Jeffrey M ^a,b  

^a Northwell Health   (United States)

^b FEINSTEIN INSTITUTE FOR MEDICAL RESEARCH   (United States)

^c UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

^d DANA FARBER CANCER INSTITUTE   (United States)

^e HARVARD MEDICAL SCHOOL   (United States)

^f BRIGHAM AND WOMEN S HOSPITAL   (United States)

^g NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^h BOSTON CHILDREN S HOSPITAL   (United States)

ⁱ UNIVERSITY OF LOUISVILLE   (United States)

^j JOHNS HOPKINS UNIVERSITY   (United States)

^k UNIVERSITY OF ARIZONA COLLEGE OF MEDICINE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CORTICOSTEROID; CYCLOSPORIN; DNA; ERYTHROPOIETIN; HEMOGLOBIN; LENALIDOMIDE; MESSENGER RNA; PROTEIN P53; DRUG DERIVATIVE; IMMUNOLOGIC FACTOR; RIBOSOME PROTEIN; RPS14 PROTEIN, HUMAN; THALIDOMIDE;

5Q- SYNDROME; ADOLESCENT; ADULT; ARTICLE; BLACKFAN DIAMOND ANEMIA; BONE MARROW CELL; BONE MARROW EXAMINATION; CASE REPORT; CENTROMERE; CYTOGENETICS; ERYTHROCYTE TRANSFUSION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE EXPRESSION; GENOTYPE; HAPLOINSUFFICIENCY; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HEMOGLOBIN BLOOD LEVEL; HUMAN; HYPOPLASIA; KARYOTYPE 46,XX; KARYOTYPING; LEUKOCYTE COUNT; MACROCYTIC ANEMIA; MEAN CORPUSCULAR VOLUME; MEGAKARYOCYTE; MOLECULAR DIAGNOSIS; MONOSOMY; MOSAICISM; MYELOPROLIFERATIVE DISORDER; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; REFRACTORY CYTOPENIA WITH MULTILINEAGE DYSPLASIA; RETICULOCYTE COUNT; SINGLE NUCLEOTIDE POLYMORPHISM; SOMATIC MUTATION; THROMBOCYTE COUNT; TREATMENT RESPONSE; CHROMOSOME 5; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; GENETICS; METHODOLOGY; PRESCHOOL CHILD; REAL TIME POLYMERASE CHAIN REACTION;

ADOLESCENT; ANEMIA, DIAMOND-BLACKFAN; ANEMIA, MACROCYTIC; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 5; CYTOGENETIC ANALYSIS; FEMALE; GENOTYPE; HUMANS; IMMUNOLOGIC FACTORS; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; REAL-TIME POLYMERASE CHAIN REACTION; RIBOSOMAL PROTEINS; THALIDOMIDE;

EID: 84887767080     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2013-06-509935     Document Type: Article

References (16)

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