Chromosome-breaking activity of extracts of the mushroomPaxillus involutus Fries ex Batsch

1991 ◽  
Vol 47 (3) ◽  
pp. 282-284 ◽  
Author(s):  
J. Gilot-Delhalle ◽  
J. Moutschen ◽  
M. Moutschen-Dahmen
Keyword(s):  
Chromosome Breaking

Regional mapping of the gene coding for enolase-2 on human chromosome 12

1982 ◽  
Vol 53 (1) ◽  
pp. 245-254
Author(s):  
M.L. Law ◽  
F.T. Kao
Keyword(s):  
Human Chromosome ◽  
Linear Order ◽  
Segregation Pattern ◽  
Chromosome 12 ◽  
Regional Mapping ◽  
Neuronal Tissue ◽  
Gene Coding ◽  
Mapping Analysis ◽  
Chromosome Breaking ◽  
Hybrid Clones

Enolase-2 (ENO2), previously termed 14-3-2 protein, is an isozyme of enolase that is enriched in neuronal tissue. The gene coding for ENO2 was previously assigned to human chromosome 12. The present study presents data for a regional mapping of gene ENO2 using cell hybrids containing various deletions of human chromosome 12. These deletions were produced by treatment with chromosome-breaking agents. Cytogenetic analysis has allowed assignment of ENO2 to the short arm of chromosome 12, in the region of pter-p1205. This assignment is consistent with the segregation pattern of the 93 hybrid clones analysed. The segregation pattern has also established the linear order of 6 genes on chromosome 12:pter-TPI-GAPD-LDHB-ENO2-centromere-SHMT-PEPB-qter. Estimation of the relative distances between the 6 genes on chromosome 12 has been made by a statistical mapping analysis of the segregation data of the hybrid clones. A set of deletion hybrids containing various combinations of these 6 markers has been established for a rapid regional mapping of genes in one of these regions on chromosome 12.

High Incidence of Fanconi Anemia in Patients with a Morphological Picture Consistent with Refractory Cytopenia of Childhood

Blood ◽  
2011 ◽  
Vol 118 (21) ◽  
pp. 2780-2780
Author(s):  
Ayami Yoshimi ◽  
Charlotte M. Niemeyer ◽  
Irith Baumann ◽  
Stephan Schwarz-Furlan ◽  
Detlev Schindler ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Fanconi Anemia ◽  
Conflicts Of Interest ◽  
Bone Marrow Failure ◽  
Test Group ◽  
Clinical Feature ◽  
Chromosomal Breakage ◽  
Mild Phenotype ◽  
European Working ◽  
Chromosome Breaking

Abstract Abstract 2780 Introduction: Refractory cytopenia in childhood (RCC) is the most common subtype of myelodysplastic syndrome (MDS) in children. Differential diagnosis from inherited bone marrow failure (IBMF) such as Fanconi anemia (FA) remains an intriguing challenge, because most patients with RCC have a hypocellular bone marrow (BM) and dysplastic features in haematopoiesis are observed in both RCC and IBMF. Moreover the spectrum of phenotypic findings in FA is extremely wide. Some FA patients have a mild phenotype without malformation. The purpose of this study is to estimate the incidence of FA in an RCC cohort without a full clinical feature of FA, but subsequently diagnosed by chromosome breaking test. Patients and Methods: Between 01/2007 and 12/2010 reference pathologists of the European Working Group of MDS in Childhood (EWOG-MDS) provided a morphological report consistent with RCC in 137 children studied in Germany. Seventeen patients with hypercellular BM or abnormal karyotype, 2 patients, in whom dyskeratosis congenital was diagnosed after initial inclusion and one patient, in whom chromosome breaking test was not performed, were excluded. Results: Seven of remaining 117 patients had facial and/or skeletal anomalies typically noted in FA and one patient had a brother with FA. In these 8 patients, FA had been suspected by their local physicians (group FA-1). Nine patients (8.3%) without these typical anomalies were subsequently diagnosed of FA by chromosome breakage test (group FA-2). The diagnosis of RCC was finally made in the remaining 100 patients with negative chromosomal breakage test (group RCC). The clinical features of patients in each group are summarized in the Table. The mean corpuscular volume of red cells (MCV) was elevated (> +2SD) for ages in all patients with FA, but only 42 % in patient with RCC. In some children of group FA-2 additional non-haematological abnormalities were also observed. However, they were not evident and or typical to prompt the treating physicians to suspect FA. A few patients in the group RCC also had some physical anomalies, not specific for any of the known IBMF disorders. Possibly that other known or not yet described IBMF disorders remain uncovered in children with “de novo” RCC. Conclusion: Our results illustrate that the same haematological features and congenital anomalies can be noted in FA and RCC. More importantly, they indicate that the exclusion of FA by a chromosomal breakage test or other methods is mandatory in all patients prior to diagnosis RCC. Chromosomal breakage analysis may identify patients with FA in 8% of patients with a morphological description of RCC without a full clinical picture of FA. Disclosures: No relevant conflicts of interest to declare.

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