نتایج جستجو برای: monosomy 21

تعداد نتایج: 249214  

Journal: :Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas 2001
R R Burbano E M Lima A S Khayat J Barbieri Neto I R Cabral L Bastos M O Bahia C Casartelli

Twelve breast fibroadenomas were analyzed cytogenetically and only four were found to have clonal alterations. The presence of chromosomal alterations in fibroadenomas must be the consequence of the proliferating process and must not be related to the etiology of this type of lesion. In contrast, the few fibroadenomas that exhibit chromosomal alterations are likely to be those presenting a risk...

Journal: :Journal of medical genetics 1985
H Rivera S A González-Flores F Rivas J Sánchez-Corona M Moller J M Cantú

Two unrelated patients with monosomy 13q32.3----qter are reported. Comparison with six similar cases previously published indicates that the craniofacial dysmorphism of the 13qter monosomy syndrome is related to band 13q34, the thumb hypoplasia to band 13q32, and an apparently different phenotype to band 13q33. Coagulation deficiency appears to be non-specific in monosomy 13qter.

Journal: :Blood 1978
F Mitelman L Brandt P G Nilsson

The chromosome banding pattern of bone marrow cells and clinical findings, including cytologic diagnosis, response to therapy, and survival time, were compared in two groups of adult patients with acute nonlymphocytic leukemia (ANLL): 23 patients occupationally exposed to chemical solvents, insecticides, and petrol products and 33 patients with no history of occupational exposure to potential m...

Journal: :Carcinogenesis 2011
Luoping Zhang Qing Lan Weihong Guo Alan E Hubbard Guilan Li Stephen M Rappaport Cliona M McHale Min Shen Zhiying Ji Roel Vermeulen Songnian Yin Nathaniel Rothman Martyn T Smith

Evidence suggests that de novo, therapy-related and benzene-induced acute myeloid leukemias (AML) occur via similar cytogenetic and genetic pathways, several of which involve aneuploidy, the loss or gain of chromosomes. Aneuploidy of specific chromosomes has been detected in benzene-related leukemia patients as well as in healthy benzene-exposed workers, suggesting that aneuploidy precedes and ...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2006
Elaine M Sloand Agnes S M Yong Shakti Ramkissoon Elena Solomou Tullia C Bruno Sonnie Kim Monika Fuhrer Sachiko Kajigaya A John Barrett Neal S Young

Granulocyte colony-stimulating factor (GCSF) administration has been linked to the development of monosomy 7 in severe congenital neutropenia and aplastic anemia. We assessed the effect of pharmacologic doses of GCSF on monosomy 7 cells to determine whether this chromosomal abnormality developed de novo or arose as a result of favored expansion of a preexisting clone. Fluorescence in situ hybri...

B Eckert, M Izadyar, P Shayan,

Objective: To study whether the generated CD1a positive cells belong to the leukemic cells among patients with juvenile myelomonocytic leukemia. Materials and Methods: We used mononuclear cells from 3 patients with juvenile myelomonocytic leukemia, from which two had monosomy 7. The mononuclear cells from these patients were cultured in RPMI/10%FCS without adding exogeneous growth factors fo...

Journal: :Orphanet Journal of Rare Diseases 2008

Journal: :Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2015
M M Gil V Accurti B Santacruz M N Plana K H Nicolaides

OBJECTIVE To review clinical validation or implementation studies of maternal blood cell-free (cf) DNA analysis and define the performance of screening for fetal trisomies 21, 18 and 13 and sex chromosome aneuploidies. METHODS Searches of PubMed, EMBASE and The Cochrane Library were performed to identify all peer-reviewed articles on cfDNA testing in screening for aneuploidies between January...

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