Acquired copy number neutral loss of heterozygosity of chromosome 7 associated with clonal haematopoiesis in a patient with shwachman-diamond syndrome

British Journal of Haematology

Volumn 159, Issue 4, 2012, Pages 480-482

  Parikh, Shefali ^a   Perdigones, Nieves ^a   Paessler, Michelle ^a   Greenbaum, Barbara ^b   Tooke, Laura S ^a   Biegel, Jaclyn A ^a,c   Mason, Philip J ^a   Bessler, Monica ^a,d  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b Voorhees Specialty Care Center   (United States)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

^d UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

Bone marrow failure; Chromosomal rearrangements; Clonal expansion; Neutropenia; Shwachman Diamond syndrome

Indexed keywords

DNA;

BONE MARROW BIOPSY; BONE MARROW CELL; CASE REPORT; CELL EXPANSION; CHILD; CHROMOSOME 7; CLONAL HEMATOPOIESIS; COPY NUMBER NEUTRAL LOSS OF HETEROZYGOSITY; FEMALE; FOLLOW UP; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC POLYMORPHISM; GENOME ANALYSIS; HEMATOPOIESIS; HEMATOPOIETIC STEM CELL; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; KARYOTYPING; LETTER; NEUTROPENIA; NEWBORN SEPSIS; PANCREAS EXOCRINE INSUFFICIENCY; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SBDS GENE; SEQUENCE ANALYSIS; SHWACHMAN SYNDROME; SINGLE NUCLEOTIDE POLYMORPHISM;

BONE MARROW DISEASES; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 7; DNA COPY NUMBER VARIATIONS; EXOCRINE PANCREATIC INSUFFICIENCY; FEMALE; HEMATOPOIESIS; HUMANS; INFANT; LIPOMATOSIS; LOSS OF HETEROZYGOSITY;

EID: 84868201034     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/bjh.12032     Document Type: Letter

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