منابع مشابه
Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7
Familial myelodysplastic syndromes arise from haploinsufficiency of genes involved in hematopoiesis and are primarily associated with early-onset disease. Here we describe a familial syndrome in seven patients from four unrelated pedigrees presenting with myelodysplastic syndrome and loss of chromosome 7/7q. Their median age at diagnosis was 2.1 years (range, 1-42). All patients presented with ...
متن کاملMyeloproliferative syndrome of monosomy 7: A brief report
We report the case of a five-month-old black male infant who had recurrent episodes of respiratory infections and also presented anemia and enlargements of the spleen, liver and lymphnodes. Hematological analysis revealed morphological abnormalities with megaloblastic dyserythropoiesis, while fetal hemoglobin assaying showed normal levels. Conventional and molecular cytogenetic analysis reveale...
متن کاملDefective neutrophil migration in monosomy-7.
The migration in vitro of neutrophils from six patients with monosomy-7 or partial deletion of the long arm of chromosome 7 was studied by two methods: the Millipore filter assay and the migration under agarose assay. Four of the patients had preleukemia, one had subacute myelomonocytic leukemia, and one polycythemia vera. In four patients, chemotaxis (migration towards a higher concentration o...
متن کاملA familial unbalanced subtelomeric translocation resulting in monosomy 6q27-->qter.
Subtelomeric rearrangements have recently gained considerable interest through publications indicating that they may be a major cause for unexplained mental retardation and/or multiple congenital anomalies. 2 As the subtelomeric regions have the highest gene density in the genome, subtelomeric aneusomies are in general thought to have a significant effect on the phenotype. Prenatal onset of gro...
متن کاملA Child with Psoriasis, Hypogammaglobulinemia, and Monosomy 7-Positive Myelodysplastic Syndrome
Namık Özbek1, Arzu Yazal Erdem1, Özlem Arman Bilir1, Fatma Karaca Kara2, Mutlu Yüksek3, Neşe Yaralı1, Meltem Özgüner4, Nazmiye Yüksek5, Bahattin Tunç1 1Ankara Children’s Hematology and Oncology Hospital, Clinic of Pediatric Hematology, Ankara, Turkey 2Ankara Children’s Hematology and Oncology Hospital, Clinic of Biochemistry, Ankara, Turkey 3Bülent Ecevit University Faculty of Medicine, Departm...
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ژورنال
عنوان ژورنال: Atlas of Genetics and Cytogenetics in Oncology and Haematology
سال: 2011
ISSN: 1768-3262
DOI: 10.4267/2042/37769