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

• Published in: British journal of haematology Vol. 159; no. 4; pp. 480 - 482
• Main Authors: Parikh, Shefali, Perdigones, Nieves, Paessler, Michelle, Greenbaum, Barbara, Tooke, Laura S., Biegel, Jaclyn A., Mason, Philip J., Bessler, Monica
• Format: Journal Article
• Language: English
• Published: Oxford Blackwell Publishing Ltd 01.11.2012; Blackwell
• Subjects: Biological and medical sciences; Bone Marrow Diseases - blood; Bone Marrow Diseases - genetics; Bone Marrow Diseases - pathology; bone marrow failure; chromosomal rearrangements; Chromosome Aberrations; Chromosomes, Human, Pair 7 - genetics; clonal expansion; DNA Copy Number Variations; Exocrine Pancreatic Insufficiency - blood; Exocrine Pancreatic Insufficiency - genetics; Exocrine Pancreatic Insufficiency - pathology; Female; Gastroenterology. Liver. Pancreas. Abdomen; Hematologic and hematopoietic diseases; Hematopoiesis - physiology; Humans; Infant; Lipomatosis - blood; Lipomatosis - genetics; Lipomatosis - pathology; Liver. Biliary tract. Portal circulation. Exocrine pancreas; Loss of Heterozygosity; Medical genetics; Medical sciences; neutropenia; Other diseases. Hematologic involvement in other diseases; Other diseases. Semiology; Shwachman-Diamond syndrome; Chromosomal aberration; Human; Shwachman-Diamond syndrome; Allelic imbalance; Leukopenia; Hematology; Acquired; Copy number; Shachman Diamond syndrome; Diseases of the osteoarticular system; Chromosome 7; Hemopathy; Exocrine pancreas insufficiency; Clonal expansion; Genetic disease; Bone marrow failure; chromosomal rearrangements; Hematopoiesis; Loss of heterozygosity; Abnormal chromosome; Digestive diseases; Pancreatic disease; Neutropenia; Chromosome translocation
• ISSN: 0007-1048; 1365-2141
• DOI: 10.1111/bjh.12032