Shwachman syndrome and chromosome breakage

1988 ◽  
Vol 79 (2) ◽  
pp. 194-194 ◽  
Author(s):  
M. Fraccaro ◽  
Susi Scappaticci ◽  
M. Aric�
Keyword(s):  
Chromosome Breakage ◽  
Shwachman Syndrome

A case of Shwachman syndrome with increased spontaneous chromosome breakage

1987 ◽  
Vol 77 (3) ◽  
pp. 289-291 ◽  
Author(s):  
H. Tada ◽  
T. Ri ◽  
H. Yoshida ◽  
K. Ishimoto ◽  
M. Kaneko ◽  
...  
Keyword(s):  
Chromosome Breakage ◽  
Spontaneous Chromosome ◽  
Shwachman Syndrome

Is Shwachman syndrome (McKusick 26040) a chromosome breakage syndrome?

1991 ◽  
Vol 87 (1) ◽  
pp. 106-107 ◽  
Author(s):  
C�lia P. Koiffmann ◽  
Claudette H. Gonzalez ◽  
Deise H. Souza ◽  
Eliana G. Romani ◽  
Chong A. Kim ◽  
...  
Keyword(s):  
Chromosome Breakage ◽  
Chromosome Breakage Syndrome ◽  
Shwachman Syndrome

Chromosome Breakage in Inversion Heterozygotes

1961 ◽  
Vol 95 (883) ◽  
pp. 250-251 ◽  
Author(s):  
E. Novitski
Keyword(s):  
Chromosome Breakage

scholarly journals New insights in phenotype and treatment of lung disease immuno-deficiency and chromosome breakage syndrome (LICS)

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Brigitte W. M. Willemse ◽  
Saskia N. van der Crabben ◽  
Wilhelmina S. Kerstjens-Frederikse ◽  
Wim Timens ◽  
Joris M. van Montfrans ◽  
...  
Keyword(s):  
Stem Cell ◽  
Hematopoietic Stem Cell Transplantation ◽  
Lung Disease ◽  
Chromosome Breakage ◽  
Recurrent Infections ◽  
Hematopoietic Stem ◽  
Chromosome Breakage Syndrome ◽  
Severe Immunodeficiency ◽  
Extended Survival ◽  
Immunological Abnormalities

AbstractWe report five patients with lung disease immuno-deficiency and chromosome breakage syndrome (LICS) but without recurrent infections and severe immunodeficiency. One patient had extended survival to 6.5 years. Hematopoietic stem-cell transplantation failed to cure another patient. Our findings suggest that the immunological abnormalities can be limited and do not fully explain the LICS phenotype.

scholarly journals Chromosome breakage undetectable in active Mu lines of maize.

Genetics ◽  
1989 ◽  
Vol 122 (1) ◽  
pp. 205-209
Author(s):  
L J Rowland ◽  
D S Robertson ◽  
J Strommer
Keyword(s):  
Transposable Elements ◽  
Low Frequency ◽  
Chromosome Breakage ◽  
Very Low Frequency ◽  
Induced Mutants ◽  
Simultaneous Loss

Abstract We have used a set of Mutator-induced mutants of Bz1 to test whether members of the Mutator (Mu) family of maize transposable elements produce broken chromosomes. From our inability to demonstrate the simultaneous loss of two dominant endosperm markers distal to Mu insertions at Bz1 we conclude that either Mu, unlike many elements of the Ds family, does not induce such breaks, or it does so at a very low frequency.

scholarly journals Replication stress induces global chromosome breakage in the fragile X genome

Cell Reports ◽  
2021 ◽  
Vol 34 (12) ◽  
pp. 108838
Author(s):  
Arijita Chakraborty ◽  
Piroon Jenjaroenpun ◽  
Jing Li ◽  
Sami El Hilali ◽  
Andrew McCulley ◽  
...  
Keyword(s):  
Fragile X ◽  
Replication Stress ◽  
Chromosome Breakage

Detection of somatic mosaicism and classification of Fanconi anemia patients by analysis of the FA/BRCA pathway

Blood ◽  
2005 ◽  
Vol 105 (3) ◽  
pp. 1329-1336 ◽  
Author(s):  
Jean Soulier ◽  
Thierry Leblanc ◽  
Jérôme Larghero ◽  
Hélène Dastot ◽  
Akiko Shimamura ◽  
...  
Keyword(s):  
Fanconi Anemia ◽  
Cancer Susceptibility ◽  
Bone Marrow Failure ◽  
Somatic Mosaicism ◽  
Chromosome Breakage ◽  
Peripheral Blood Lymphocytes ◽  
Specific Analysis ◽  
Number Of Patients ◽  
Chromosome Fragility

AbstractFanconi anemia (FA) is characterized by congenital abnormalities, bone marrow failure, chromosome fragility, and cancer susceptibility. Eight FA-associated genes have been identified so far, the products of which function in the FA/BRCA pathway. A key event in the pathway is the monoubiquitination of the FANCD2 protein, which depends on a multiprotein FA core complex. In a number of patients, spontaneous genetic reversion can correct FA mutations, leading to somatic mosaicism. We analyzed the FA/BRCA pathway in 53 FA patients by FANCD2 immunoblots and chromosome breakage tests. Strikingly, FANCD2 monoubiquitination was detected in peripheral blood lymphocytes (PBLs) in 8 (15%) patients. FA reversion was further shown in these patients by comparison of primary fibro-blasts and PBLs. Reversion was associated with higher blood counts and clinical stability or improvement. Once constitutional FANCD2 patterns were determined, patients could be classified based on the level of FA/BRCA pathway disruption, as “FA core” (upstream inactivation; n = 47, 89%), FA-D2 (n = 4, 8%), and an unidentified downstream group (n = 2, 4%). FA-D2 and unidentified group patients were therefore relatively common, and they had more severe congenital phenotypes. These results show that specific analysis of the FA/BRCA pathway, combined with clinical and chromosome breakage data, allows a comprehensive characterization of FA patients.

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