Multi-institutional experience of genetic diagnosis in Ecuador: National registry of chromosome alterations and polymorphisms. [PDF]
Mol Genet Genomic Med, 2020 Of 28,806 karyotypes analyzed in Ecuador, 6,008 (20.9%) exhibited alterations. Down syndrome was the most frequent autosome alteration (88.28%), followed by Turner syndrome (60.50%). Translocations (2.46%) and polymorphisms (7.84%) were not as numerous as autosomopathies (64.33%) and gonosomopathies (25.37%).
Paz-Y-Miño C +33 more
europepmc +2 more sources
Evaluación del programa de detección prenatal de anomalías cromosómicas mediante estudios citogenéticos [PDF]
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 +5 more
doaj +6 more sources
Abstract Book for the 27th Congress of the European Hematology Association [PDF]
Hemasphere, 2022 HemaSphere, Volume 6, Issue S3, Page 1-4130, June 2022.
europepmc +2 more sources
Abstract Book: 25th Congress of the European Hematology Association Virtual Edition, 2020 [PDF]
Hemasphere, 2020 HemaSphere, Volume 4, Issue S1, Page 1-1168, June 2020.
europepmc +2 more sources
A rare non-Robertsonian translocation involving chromosomes 15 and 21. [PDF]
Sao Paulo Med J, 2013 CONTEXTO:Translocações robertsonianas (TR) estão entre os rearranjos estruturais balanceados mais comuns em humanos e compreendem a fusão da cromatina completa do braço longo de dois cromossomos acrocêntricos.
Baruffi MR +4 more
europepmc +4 more sources
SARS‐CoV‐2 infection as cause of in‐utero fetal death: regional multicenter cohort study
Ultrasound in Obstetrics &Gynecology, Volume 62, Issue 6, Page 867-874, December 2023., 2023 ABSTRACT Objective Placental infection with severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2) can lead to placental insufficiency and in‐utero fetal death (IUFD). The objective of this study was to confirm and quantify the extent to which fetoplacental infection with SARS‐CoV‐2 is a cause of fetal death.
M. Nkobetchou +9 more
wiley +1 more source
NOVA, 2011 La hibridación in situ por fluorescencia (FISH) se puede utilizar para diagnosticar prenatalmente las aneuploidías más frecuentes. Se utilizan núcleos interfásicos de células fetales no cultivadas. Este es un avance importante en el diagnóstico prenatal.
Luz Mery Bernal Parra +2 more
doaj +1 more source
Chromosomal aberrations in patients with suspected Prader Willi syndrome [PDF]
, 2023 Introduction: Prader-Willi syndrome, caused by the absence of expression of the paternal 15q11-13 region, is the first imprinting defect disorder described in humans.
Barrios Martínez, Anduriña +11 more
core +2 more sources
EHA2021 Virtual Congress Abstract Book
, 2021 HemaSphere, Volume 5, Issue S2, June 2021.
wiley +1 more source
Displasia diastrófica: diagnóstico pré-natal e revisão da literatura [PDF]
, 2013 CONTEXT Diastrophic dysplasia is a type of osteochondrodysplasia caused by homozygous mutation in the gene DTDST (diastrophic dysplasia sulfate transporter gene).
Araujo Júnior, Edward +6 more
core +2 more sources