Innovative method for reducing uninformative calls in non-invasive prenatal testing [PDF]
, 2018 Non-invasive prenatal testing or NIPT is currently among the top researched topic in obstetric care. While the performance of the current state-of-the-art NIPT solutions achieve high sensitivity and specificity, they still struggle with a considerable ...
Budis, Jaroslav +13 more
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, 1997 Une etude epidemiologique a ete effectuee dans la region du Saguenay Lac St-Jean a partir de 144 caryotypes d'enfants atteints de trisomie 21 repertories au Centre hospitalier de Chicoutimi (l'unique etablissement dans la region 02 specialise dans l'interpretation du nombre et de la structure des chromosomes). Une etude genetique a ete realisee avec
openaire +1 more source
MALT1, BCL10 and FOXP1 in salivary gland mucosa-associated lymphoid tissue lymphomas [PDF]
, 2006 In view of the certain anatomic site-dependent frequency of chromosomal translocations involved in extranodal marginal zone B cell lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma) pathogenesis, 17 salivary gland MALT lymphoma cases were ...
Isaacson PG +8 more
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Chimerism 47,XY,+21/46,XX in a female infant with anencephaly and other congenital defects
Genetics and Molecular Biology, 2006 Chimerism is rare in humans and is usually discovered accidentally when a 46,XX and 46,XY karyotype is found in a same individual. We describe a malformed female infant with neural tube defect (NTD) and a 47,XY,+21[5]/46,XX[30] karyotype.
Danielle R. Lucon +2 more
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Prenatal diagnosis of trisomy 6q25.3-qter and monosomy 10q26.12-qter by array CGH in a fetus with an apparently normal karyotype. [PDF]
, 2014 We present the prenatal case of a 12.5-Mb duplication involving 6q25-qter and a 12.2-Mb deletion encompassing 10q26-qter diagnosed by aCGH, while conventional karyotype showed normal results.
Marinescu, Ponnila S +4 more
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Early non-invasive epigenetic approach for assessing trisomy risk in maternal plasma
Frontiers in MedicineBackgroundKaryotyping is the standard confirmatory test for identifying chromosomal abnormalities, such as Trisomy 21, which requires amniotic fluid from pregnant women.
Tridiv Katiyar +4 more
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Leukemia-related chromosomal loss detected in hematopoietic progenitor cells of benzene-exposed workers. [PDF]
, 2012 Benzene exposure causes acute myeloid leukemia and hematotoxicity, shown as suppression of mature blood and myeloid progenitor cell numbers. As the leukemia-related aneuploidies monosomy 7 and trisomy 8 previously had been detected in the mature ...
Guo, W +14 more
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Perfil de desarrollo evolutivo de un bebé con una cromosomopatía infrecuente en nacidos vivos [PDF]
, 2014 La trisomía 22 en nacidos vivos se clasifica dentro de las denominadas enfermedades raras o poco frecuentes. Se evalúa el perfil evolutivo de dos niñas (trisomía 22 y trisomía 21), antes y después de la aplicación de un tratamiento de atención temprana.
Robles Bello, María Auxiliadora +2 more
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Umbilical cord diameter at early second trimester: Relation to trisomy 21
International Journal of Preventive Medicine, 2019 Background: To compare the umbilical cord diameter (UCD) at early second trimester (at 17–19 weeks of gestation) in trisomy 21 and normal fetuses and determined value of measuring UCD in screening trisomy 21. Methods: This was a case–control study.
Sedigheh Hantoushzadeh +4 more
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Quiet a Puzzle: A Case Report of 15 year Old Female with Severe Anemia Due To Scurvy [PDF]
, 2020 Scurvy is historically thought of a disease affecting sailors in the seventeenth century. Vitamin C deficiency is rare in the developed world. It is mainly found in patients with poor nutrition and specifically those with developmental delay.
Alqahtani, Shaikha, Zhihong, Wang
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