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Familial Monosomy 7 Syndrome RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.
Morrissette JJD, Wertheim G, Olson T. Morrissette JJD, et al. 2010 Jul 8 [updated 2016 Jan 21]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2010 Jul 8 [updated 2016 Jan 21]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20614583 Free Books & Documents. Review.
Identification of peripheral blood leukocytes with monosomy 7 usually precedes bone marrow failure/MDS/AML by a few months to years. Nearly all individuals reported with familial monosomy 7 have died of their disease. ...GENETIC COUNSELING: The …
Identification of peripheral blood leukocytes with monosomy 7 usually precedes bone marrow failure/MDS/AML by a few months to …
Familial Monosomy 7 Syndrome Associated with Myelodysplasia.
Rathi S, Kondekar S, Kadakia P, Sawardekar S, De T. Rathi S, et al. Indian J Pediatr. 2019 Nov;86(11):1059. doi: 10.1007/s12098-019-02990-9. Epub 2019 Jun 17. Indian J Pediatr. 2019. PMID: 31209763 No abstract available.
Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7.
Pastor VB, Sahoo SS, Boklan J, Schwabe GC, Saribeyoglu E, Strahm B, Lebrecht D, Voss M, Bryceson YT, Erlacher M, Ehninger G, Niewisch M, Schlegelberger B, Baumann I, Achermann JC, Shimamura A, Hochrein J, Tedgård U, Nilsson L, Hasle H, Boerries M, Busch H, Niemeyer CM, Wlodarski MW. Pastor VB, et al. Haematologica. 2018 Mar;103(3):427-437. doi: 10.3324/haematol.2017.180778. Epub 2017 Dec 7. Haematologica. 2018. PMID: 29217778 Free PMC article. Clinical Trial.
Here we describe a familial syndrome in seven patients from four unrelated pedigrees presenting with myelodysplastic syndrome and loss of chromosome 7/7q. ...Dysmorphic features or neurological symptoms were absent in our patients, pointing to the notion that …
Here we describe a familial syndrome in seven patients from four unrelated pedigrees presenting with myelodysplastic syndro …
The spectrum of GATA2 deficiency syndrome.
Calvo KR, Hickstein DD. Calvo KR, et al. Blood. 2023 Mar 30;141(13):1524-1532. doi: 10.1182/blood.2022017764. Blood. 2023. PMID: 36455197 Free PMC article.
Dysplasia may either be absent or subtle but typically evolves into multilineage dysplasia with prominent dysmegakaryopoiesis, followed in some instances by progression to myeloid malignancies, specifically myelodysplastic syndrome, acute myelogenous leukemia, and chronic …
Dysplasia may either be absent or subtle but typically evolves into multilineage dysplasia with prominent dysmegakaryopoiesis, followed in s …
SAMD9L Ataxia-Pancytopenia Syndrome.
Raskind WH, Chen DH, Bird T. Raskind WH, et al. 2017 Jun 1 [updated 2021 Feb 4]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2017 Jun 1 [updated 2021 Feb 4]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 28570036 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: SAMD9L ataxia-pancytopenia (ATXPC) syndrome is characterized by cerebellar ataxia, variable hematologic cytopenias, and predisposition to marrow failure, myelodysplasia, and myeloid leukemia, sometimes associated with monosomy 7. ... …
CLINICAL CHARACTERISTICS: SAMD9L ataxia-pancytopenia (ATXPC) syndrome is characterized by cerebellar ataxia, variable hematologic cyt …
A landscape of germ line mutations in a cohort of inherited bone marrow failure patients.
Bluteau O, Sebert M, Leblanc T, Peffault de Latour R, Quentin S, Lainey E, Hernandez L, Dalle JH, Sicre de Fontbrune F, Lengline E, Itzykson R, Clappier E, Boissel N, Vasquez N, Da Costa M, Masliah-Planchon J, Cuccuini W, Raimbault A, De Jaegere L, Adès L, Fenaux P, Maury S, Schmitt C, Muller M, Domenech C, Blin N, Bruno B, Pellier I, Hunault M, Blanche S, Petit A, Leverger G, Michel G, Bertrand Y, Baruchel A, Socié G, Soulier J. Bluteau O, et al. Blood. 2018 Feb 15;131(7):717-732. doi: 10.1182/blood-2017-09-806489. Epub 2017 Nov 16. Blood. 2018. PMID: 29146883 Free article.
We studied a cohort of 179 patients (from 173 families) with BMF of suspected inherited origin but unresolved diagnosis after medical evaluation and Fanconi anemia exclusion. ...This study broadens the molecular and clinical portrait of IBMF syndromes and sheds ligh …
We studied a cohort of 179 patients (from 173 families) with BMF of suspected inherited origin but unresolved diagnosis after medical …
MIRAGE Syndrome.
Tanase-Nakao K, Olson TS, Narumi S. Tanase-Nakao K, et al. 2020 Nov 25. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2020 Nov 25. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 33237688 Free Books & Documents. Review.
Individuals with severe neutropenia and chronic transfusion requirements, along with individuals who develop monosomy 7 myelodysplastic syndrome should be considered for hematopoietic stem cell transplantation. ...Rarely, individuals diagnosed with MIRAGE …
Individuals with severe neutropenia and chronic transfusion requirements, along with individuals who develop monosomy 7 myelod …
Heterogeneity of GATA2-related myeloid neoplasms.
Hirabayashi S, Wlodarski MW, Kozyra E, Niemeyer CM. Hirabayashi S, et al. Int J Hematol. 2017 Aug;106(2):175-182. doi: 10.1007/s12185-017-2285-2. Epub 2017 Jun 22. Int J Hematol. 2017. PMID: 28643018 Review.
Despite pleiotropic clinical manifestations, the high propensity for the development of myelodysplastic syndromes (MDS) constitutes the most common clinical denominator of this major MDS predisposition syndrome. ...The most common abnormal karyotypes associated with …
Despite pleiotropic clinical manifestations, the high propensity for the development of myelodysplastic syndromes (MDS) constitutes t …
Familial Myelodysplastic Syndrome/Acute Myeloid Leukaemia With Monosomy 7: Report of a New Kindred.
Antunovic P, Marisavljevic D, Novak A, Mijovic A. Antunovic P, et al. Hematology. 1998;3(1):31-6. doi: 10.1080/10245332.1998.11746377. Hematology. 1998. PMID: 27416281
Familial juvenile myeloid disorders are uncommon, but better understanding of their basis may lead to crucial advances in the study of leukemogenesis. ...Therefore, the clinical and genetic findings are consistent with the "Familial Monosomy 7". A cons …
Familial juvenile myeloid disorders are uncommon, but better understanding of their basis may lead to crucial advances in the study o …
Germ-line GATA2 p.THR354MET mutation in familial myelodysplastic syndrome with acquired monosomy 7 and ASXL1 mutation demonstrating rapid onset and poor survival.
Bödör C, Renneville A, Smith M, Charazac A, Iqbal S, Etancelin P, Cavenagh J, Barnett MJ, Kramarzová K, Krishnan B, Matolcsy A, Preudhomme C, Fitzgibbon J, Owen C. Bödör C, et al. Haematologica. 2012 Jun;97(6):890-4. doi: 10.3324/haematol.2011.054361. Epub 2012 Jan 22. Haematologica. 2012. PMID: 22271902 Free PMC article.
While most myelodysplastic syndrome/acute myeloid leukemia cases are sporadic, rare familial cases occur and provide some insight into leukemogenesis. ...These findings confirm that germline GATA2 mutations predispose to familial myelodysplastic syndrome …
While most myelodysplastic syndrome/acute myeloid leukemia cases are sporadic, rare familial cases occur and provide some insi …
69 results