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Constitutional trisomy 8 mosaicism with myelodysplastic syndrome complicated by intestinal Behcet disease and antithrombin III deficiency. 2005

Sachiko Ando, and Masayo Maemori, and Hajime Sakai, and Seisho Ando, and Hideaki Shiraishi, and Keisuke Sakai, and Gregory W Ruhnke
Department of Hematology, Teine Keijinkai Hospital, Hokkaido, Japan. a-sachi@abox.so-net.ne.jp

Trisomy 8 is the most common acquired chromosomal abnormality associated with myeloid malignancy. As a constitutional trisomy 8 mosaicism (T8M), it exhibits an extremely variable phenotype. In addition, Behcet disease (BD) has been reported as an unusual complication of myelodysplastic syndrome (MDS). To our knowledge, 12 case reports of various hematologic malignancies in patients with T8M and 18 case reports of MDS with acquired trisomy 8 complicated by BD have been published to date. We report a case of constitutional T8M with MDS complicated by intestinal BD and antithrombin III deficiency.

UI MeSH Term Description Entries
D007410 Intestinal Diseases Pathological processes in any segment of the INTESTINE from DUODENUM to RECTUM. Disease, Intestinal,Diseases, Intestinal,Intestinal Disease
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D009030 Mosaicism The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
D009190 Myelodysplastic Syndromes Clonal hematopoietic stem cell disorders characterized by dysplasia in one or more hematopoietic cell lineages. They predominantly affect patients over 60, are considered preleukemic conditions, and have high probability of transformation into ACUTE MYELOID LEUKEMIA. Dysmyelopoietic Syndromes,Hematopoetic Myelodysplasia,Dysmyelopoietic Syndrome,Hematopoetic Myelodysplasias,Myelodysplasia, Hematopoetic,Myelodysplasias, Hematopoetic,Myelodysplastic Syndrome,Syndrome, Dysmyelopoietic,Syndrome, Myelodysplastic,Syndromes, Dysmyelopoietic,Syndromes, Myelodysplastic
D002898 Chromosomes, Human, Pair 8 A specific pair of GROUP C CHROMOSOMES of the human chromosome classification. Chromosome 8
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001528 Behcet Syndrome Rare chronic inflammatory disease involving the small blood vessels. It is of unknown etiology and characterized by mucocutaneous ulceration in the mouth and genital region and uveitis with hypopyon. The neuro-ocular form may cause blindness and death. SYNOVITIS; THROMBOPHLEBITIS; gastrointestinal ulcerations; RETINAL VASCULITIS; and OPTIC ATROPHY may occur as well. Behcet Disease,Behcet's Disease,Behcet's Syndrome,Triple-Symptom Complex,Adamantiades-Behcet Disease,Behcet Triple Symptom Complex,Behçet Disease,Old Silk Route Disease,Triple Symptom Complex,Adamantiades Behcet Disease,Adamantiades-Behcet Diseases,Behçet Diseases,Symptom Complex, Triple,Triple Symptom Complices
D014314 Trisomy The possession of a third chromosome of any one type in an otherwise diploid cell. Partial Trisomy,Chromosomal Triplication,Chromosomal Triplications,Partial Trisomies,Trisomies,Trisomies, Partial,Trisomy, Partial
D020152 Antithrombin III Deficiency An absence or reduced level of Antithrombin III leading to an increased risk for thrombosis. Antithrombin 3 Deficiency,Congenital Antithrombin III Deficiency,Deficiency, Antithrombin III,Hereditary Antithrombin Deficiency,Antithrombin 3 Deficiencies,Antithrombin III Deficiencies,Deficiencies, Antithrombin 3,Deficiencies, Antithrombin III,Deficiency, Antithrombin 3

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