Results 1 to 10 of about 249 (99)

Estudio comparativo de cuatro analizadores diferentes para la evaluación prenatal del riesgo de trisomía 21 [PDF]

Advances in Laboratory Medicine
Existen diversos tipos de analizadores para realizar la cuantificación de los biomarcadores séricos de trisomía 21 empleados en el cribado del primer trimestre [fracción beta libre de la gonadotropina coriónica humana (β-hCG) y proteína plasmática A ...
García-Simón Natalia, Martínez-Payo Cristina, Bernabeu-Andreu Francisco A., Donoso-Navarro Encarnación   +3 more
doaj   +2 more sources

Importancia de la determinación de variantes en el número de copias en neonatos con aneuploidías autosómicas [PDF]

Biomédica: revista del Instituto Nacional de Salud, 2021
Introducción. Las aneuploidías son trastornos genéticos frecuentes en la práctica clínica; sin embargo, se conoce poco sobre las otras variantes genéticas que modifican el fenotipo final. Objetivo.
Hugo Abarca, Milana Trubnykova, Félix Chavesta, Marco Ordóñez, Evelina Rondón   +4 more
doaj   +2 more sources

Craniofacial abnormalities among patients with Edwards Syndrome [PDF]

Revista Paulista de Pediatria, 2013
OBJECTIVE To determine the frequency and types of craniofacial abnormalities observed in patients with trisomy 18 or Edwards syndrome (ES). METHODS This descriptive and retrospective study of a case series included all patients diagnosed with ES in a ...
Rafael Fabiano M. Rosa, Rosana Cardoso M. Rosa, Marina Boff Lorenzen, Paulo Ricardo G. Zen, Carla Graziadio, Giorgio Adriano Paskulin   +5 more
doaj   +2 more sources

Diagnostic yield using whole‐genome sequencing and in‐silico panel of 281 genes associated with non‐immune hydrops fetalis in clinical setting

Ultrasound in Obstetrics &Gynecology, Volume 60, Issue 4, Page 487-493, October 2022., 2022
ABSTRACT Objective To investigate the diagnostic yield of clinical whole‐genome sequencing (WGS) in prenatally diagnosed non‐immune hydrops fetalis (NIHF). Methods This was a retrospective study of 23 fetuses with prenatally diagnosed NIHF, negative for trisomies and copy‐number variants, referred for analysis by WGS with an in‐silico panel of 281 ...
E. Westenius, E. Sahlin, P. Conner, A. Lindstrand, E. Iwarsson   +4 more
wiley   +1 more source

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

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

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

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