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

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.

Riyadh Chromosome Breakage Syndrome: Mental Retardation With Depigmentation of the Skin and Hair

1992 ◽  
Vol 7 (1_suppl) ◽  
pp. S79-S82 ◽  
Author(s):  
Pinar T. Ozand ◽  
Manjula Waghray ◽  
Jay D. Cook ◽  
Kirtikant Sheth ◽  
Generoso G. Gascon
Keyword(s):  
Mental Retardation ◽  
Sister Chromatid ◽  
Chromosome Breakage ◽  
Hair Color ◽  
Γ Irradiation ◽  
Exchange Frequency ◽  
Chromosome Breaks ◽  
Chromosome Breakage Syndrome ◽  
Sister Chromatid Exchange Frequency ◽  
Spontaneous Chromosome

A 20-month-old infant with "silvery-blond" hair color, widespread confettilike depigmentation of the skin, and mental retardation was found to have, in lymphocytes and fibroblast cultures, increased spontaneous chromosome breaks and breaks induced by both mitomycin and γ-irradiation. The sister chromatid exchange frequency was normal. This child probably represents a new chromosome breakage syndrome. (J Child Neurol 1992;7(Suppl):S79-S82.)

Transformation of chromosome breakage syndrome fibroblasts by SV40 DNA transfection

1986 ◽  
Vol 20 (1-2) ◽  
pp. 137-147 ◽  
Author(s):  
Meira Shaham ◽  
Barbara Adler ◽  
R.S.K. Chaganti
Keyword(s):  
Chromosome Breakage ◽  
Dna Transfection ◽  
Chromosome Breakage Syndrome ◽  
Sv40 Dna

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

Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome (LICS)

2021 ◽  
pp. 1-3
Author(s):  
Elham Rayzan ◽  
Nima Rezaei
Keyword(s):  
Lung Disease ◽  
Chromosome Breakage ◽  
Chromosome Breakage Syndrome

Is Rett syndrome a chromosome breakage syndrome?

1994 ◽  
Vol 51 (4) ◽  
pp. 602-605 ◽  
Author(s):  
Louise Telvi ◽  
Marion Leboyer ◽  
Catherine Chiron ◽  
Josué Feingold ◽  
Gérard Ponsot
Keyword(s):  
Rett Syndrome ◽  
Chromosome Breakage ◽  
Chromosome Breakage Syndrome

scholarly journals Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease

2016 ◽  
Vol 126 (8) ◽  
pp. 2881-2892 ◽  
Author(s):  
Saskia N. van der Crabben ◽  
Marije P. Hennus ◽  
Grant A. McGregor ◽  
Deborah I. Ritter ◽  
Sandesh C.S. Nagamani ◽  
...  
Keyword(s):  
Lung Disease ◽  
Chromosome Breakage ◽  
Chromosome Breakage Syndrome ◽  
Severe Lung Disease ◽  
Severe Lung

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

P078 Aggressive T-anaplastic large cell non-Hodgkin lymphoma in patient with chromosome breakage syndrome - a case report

2007 ◽  
Vol 31 ◽  
pp. S99
Author(s):  
S. Kinda Bašić ◽  
I. Radman ◽  
D. Pulanić ◽  
R. Lasan-Trčić ◽  
I. Kardum ◽  
...  
Keyword(s):  
Case Report ◽  
Hodgkin Lymphoma ◽  
Large Cell ◽  
Chromosome Breakage ◽  
Non Hodgkin Lymphoma ◽  
Chromosome Breakage Syndrome
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