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.

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1600-0609.1981.tb00461.xDOI Listing

Publication Analysis

Top Keywords

5q- chromosome
12
patients
8
patients 5q-
8
type patients
8
5q-
5
chromosome preleukaemia
4
preleukaemia acute
4
acute leukaemia
4
leukaemia patients
4
chromosome described
4

Similar Publications

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 PDF

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 PDF

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 PDF

Nonrecurrent Triplication of 5q21.3q23.3: A Case Report and Review of the Literature.

Am 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 PDF

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.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!