Results 11 to 20 of about 5,538 (187)

Congenital heart disease and chromossomopathies detected by the karyotype

Revista Paulista de Pediatria, 2014
OBJECTIVE: To review the relationship between congenital heart defects and chromosomal abnormalities detected by the karyotype.DATA SOURCES: Scientific articles were searched in MEDLINE database, using the descriptors "karyotype" OR "chromosomal" OR ...
Patrícia Trevisan, Rafael Fabiano M. Rosa, Dayane Bohn Koshiyama, Tatiana Diehl Zen, Giorgio Adriano Paskulin, Paulo Ricardo G. Zen   +5 more
doaj   +1 more source

New approaches to studying early brain development in Down syndrome

Developmental Medicine &Child Neurology, Volume 61, Issue 8, Page 867-879, August 2019., 2019
Down syndrome is the most common genetic developmental disorder in humans and is caused by partial or complete triplication of human chromosome 21 (trisomy 21). It is a complex condition which results in multiple lifelong health problems, including varying degrees of intellectual disability and delays in speech, memory, and learning. As both length and
Ana A Baburamani, Prachi A Patkee, Tomoki Arichi, Mary A Rutherford   +3 more
wiley   +1 more source

Embryos in Assisted Human Reproduction: Controversies about the Freezing and the Preimplantation Genetic Study [PDF]

, 2019
Este estudio pretende un aproximación a la controversia jurídica relativa a la congelación de embriones sobrantes en técnicas de reproducción humana asistida y en conexión al estudio genético pre-implantatorio.This paper aims an approach to juridical ...
Craviotto Valle, Patricia
core   +1 more source

PB1716 CLINICAL AND GENETIC FEATURES AND PROGNOSIS ANALYSIS OF PATIENTS WITH RECURRENT GENETIC ABNORMALITY T(12;22) (P13;Q12)

HemaSphere, Volume 3, Issue S1, Page 789-790, June 2019., 2019
Background: Cytogenetic abnormality is an important basis for prognostic stratification of acute leukemia. Chromosome translocation t(12;22)(p13;q12) and MN1‐ETV6/ETV6‐MN1 fusion was reported to be a recurrent genetic abnormality in acute myeloid leukemia (AML) / myelodysplastic syndrome (MDS) but only found in 12 cases to date.
T. Wang, X. Ma, S. Hui, J. Ni, Y. Yin, W. Cao, Y. Zhang, X. Wang, X. Chen, H. Liu   +9 more
wiley   +1 more source

PB1717 RELAPSES OF CHILDHOOD MYELOID LEUKEMIA, A CASE SERIES

HemaSphere, Volume 3, Issue S1, Page 790, June 2019., 2019
Background: Despite significant progress in treating paediatric acute myeloid leukaemia (AML), relapse rates still range between 30% and 40%, with overall survival rates commonly below 70%. Aims: The aim of this study is the identification of all relevant characteristics and outcomes in a group of patients with childhood AML who relapsed after initial ...
M. Nikita, M. Servitzoglou, A. Pourtsidis, D. Doganis, K. Kapetaniou, S. Papachristidou, E. Magkou, T. Anastasiou, M. Baka   +8 more
wiley   +1 more source

Dilemas éticos y toma de decisiones en el diagnóstico prenatal de trisomía 21

, 2021
Objective . To reflect on the clinical, ethical and legal aspects of a case of prenatal diagnosis of Trisomy 21 with detection of fetal DNA in maternal blood. Material and method .
Ainoa Biurrun-Garrido
semanticscholar   +1 more source

PB1718 FLT3 TESTING IN RELAPSED ACUTE MYELOID LEUKEMIA SETTING IS BECOMING INCREASINGLY COMMON, BUT LABORATORY TURNAROUND TIMES (TAT) MAY BE A BARRIER TO TREATMENT WITH SECOND GENERATION FLT3 INHIBITORS.

HemaSphere, Volume 3, Issue S1, Page 790-791, June 2019., 2019
Background: The treatment landscape in AML has developed at an astonishing pace in the last 3 years, with >5 therapies being approved by the FDA. FLT3 inhibitors gilteritinib (Gil) and quizartinib (Quiz) present an unprecedented opportunity for improved survival in relapse and refractory AML.
E. Golebiewska, D.M. Keeling, J. Parker, M. Fillion, J. Clark   +4 more
wiley   +1 more source

Restricción del crecimiento intrauterino como factor de riesgo para malformaciones congénitas [PDF]

, 2009
Indexación: ScieloAntecedentes: La restricción del crecimiento intrauterino (RCIU) se estima que está presente en el 5% de los nacimientos y es la manifestación de procesos aberrantes que impiden el desarrollo normal del feto.
Aguila R., Alfredo, Cifuentes O., Lucía, Moya C., Loreto, Nazer H., Julio, Ramírez R., Constanza, Seymour M., Camila, Ureta L, Pilar   +6 more
core   +2 more sources

Flow Cytometric DNA Index and Karyotype in Childhood Lymphoblastic Leukemia

Analytical Cellular Pathology, Volume 17, Issue 3, Page 145-156, 1998., 1998
Flow cytometric DNA‐index (DIFCM) and karyotype were analysed in 82 consecutive children with acute lymphoblastic leukemia (ALL) during a 10 year period. A statistically significant correlation existed between modal chromosome number and DIFCM (p = 0.009).
Erik Forestier, Gösta Holmgren, Göran Roos   +2 more
wiley   +1 more source

Evaluación del programa de detección prenatal de anomalías cromosómicas mediante estudios citogenéticos

Medimay, 2013
para conocer el complemento cromosómico fetal. En la provincia Mayabeque la amniocentesis, como proceder obstétrico para obtener células fetales, se comenzó a realizar en el año 2010.
Daniel Quintana Hernández, Guillermo Hernández Guillada, Ismael Pérez Alvarez, Dayami Dorta García, Lino Oviedo de la Cruz, Mercedes Rodríguez Domínguez   +5 more
doaj   +4 more sources