13 patients with the 5q- chromosome are described. In 6 patients the 5q- chromosome was the sole aberration. 10 patients had preleukaemia, 1 a preleukaemia-like syndrome after treatment of polycythaemia vera, a 2 acute myeloid leukaemia. The prognosis was especially poor in terms of survival in preleukaemic patients with 3 or more affected chromosomes: none of these 6 patients survived for more than 6 months. In 4 patients the haematological picture resembled 'the 5q- syndrome'. In the long arm of chromosome No 5 deletions of 3 different kinds were detected. They were named according to the size of the 5q- marker: the short type (10 patients), the intermediate type (1 patient) and the long type (2 patients). There was no clear correlation between the clinical picture and the type of deletion. While the break points cannot always be exactly defined, our data and those reviewed from the literature suggest that the loss of a segment of regions 5q2 or 5q3 is common to all or most deletions.
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http://dx.doi.org/10.1111/j.1600-0609.1981.tb00461.x | DOI Listing |
Familial Platelet Disorder with associated Myeloid Malignancy (FPDMM, FPD/AML, -FPD), caused by monoallelic deleterious germline variants, is characterized by bleeding diathesis and predisposition for hematologic malignancies, particularly myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Clinical data on FPDMM-associated AML (FPDMM-AML) are limited, complicating evidence-based clinical decision-making. Here, we present retrospective genetic and clinical data of the largest cohort of FPDMM patients reported to date.
View Article and Find Full Text PDFHered Cancer Clin Pract
January 2025
First Department of Medicine, Hamamatsu University School of Medicine, Hamamatsu, 431-3192, Japan.
Background: Familial adenomatous polyposis (FAP) is an autosomal dominant colorectal tumour syndrome characterised by the formation of multiple adenomatous polyps throughout the colon. It is important to understand the extracolonic phenotype that characterizes FAP. Most previous case reports of patients with both FAP and intellectual disability (ID) have described deletions in all or part of chromosome 5q, including the APC locus.
View Article and Find Full Text PDFAnn Lab Med
March 2025
School of Biomedical Sciences, The University of Western Australia, Crawley, Australia.
Chromosomes 5 and 7 are large chromosomes that contain close to 1,000 genes each. Deletions of the long arms or loss of the entire chromosome (monosomy) are common defects in myeloid disorders, particularly MDS and AML. Loss of material from either chromosome 5 or 7 results in haploinsufficiency of multiple genes, with some implicated in leukemogenesis.
View Article and Find Full Text PDFAm J Med Genet A
December 2024
Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa Health Care, Iowa City, Iowa, USA.
Triplications involving 5q21.3q23.3 are rare, and a phenotype has not been established.
View Article and Find Full Text PDFArq Neuropsiquiatr
December 2024
Universidade de São Paulo, Faculdade de Medicina, Departamento de Neurologia, São Paulo SP, Brazil.
Background: Spinal muscular atrophy linked to chromosome 5q (SMA-5q) is a neurodegenerative disorder caused by mutations in the gene.
Objective: To describe the key demographic, clinical and genetic characteristics, as well as natural history data of patients with SMA-5q.
Methods: Up to January 2022, 706 patients with confirmed genetic diagnosis of SMA-5q, or their parents, completed a self-reported questionnaire on natural history, genetic characteristics, drug treatments, and multidisciplinary care.
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