Clinical findings associated with a de novo partial trisomy 10p11.22p15.3 and monosomy 7p22.3 detected by chromosomal microarray analysis. [PDF]
, 2011 We present the case of an 18-month-old boy with dysmorphic facial features, developmental delay, growth retardation, bilateral clubfeet, thrombocytopenia, and strabismus, whose array CGH analysis revealed concurrent de novo trisomy 10p11.22p15.3 and ...
Dipple, Katrina M +3 more
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A rare presentation of the Klinefelter's syndrome [PDF]
, 2003 A 16 years old boy with Chronic Renal Failure (CRF) was not suspected of having Klinefelter's syndrome until he complained of painful gynecomastia. He was under haemodialysis for 2 years. At first, he was in an approximately full pubertal development (P5,
A. Frank +23 more
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Study on Types of Chromosomal Abnormalities among Children and Adolescents in Hamadan
پژوهان, 2021 Aims: Problems caused by chromosomal abnormalities along with long-term disabilities can have devastating effects on the patient, family, health care system and society.
Fatemeh Bahreini +2 more
doaj
Stud-breeding work in sheep breeding based on cytogenetic monitoring [PDF]
BIO Web of Conferences, 2022 The article presents the results of the cytogenetic monitoring in the breeding, selection and reproduction of sheep in the ecological conditions of Ukraine.
Rossokha Vladimir Ivanovich +6 more
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A case of acute myeloid leukemia (AML) with an unreported combination of chromosomal abnormalities: gain of isochromosome 5p, tetrasomy 8 and unbalanced translocation der(19)t(17;19)(q23;p13) [PDF]
, 2013 BACKGROUND: Acute myeloid leukemia (AML) comprises a spectrum of myeloid malignancies which are often associated with distinct chromosomal abnormalities, and the analysis of such abnormalities provides us with important information for disease ...
Christian Paar +5 more
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Gain of 20q11.21 in human pluripotent stem cells impairs TGF-β-dependent neuroectodermal commitment [PDF]
, 2019 Gain of 20q11.21 is one of the most common recurrent genomic aberrations in human pluripotent stem cells. Although it is known that overexpression of the antiapoptotic gene Bcl-xL confers a survival advantage to the abnormal cells, their differentiation ...
De Deckersberg, E. Couvreu +13 more
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Haematologica, 2010 Background Acute promyelocytic leukemia is a subtype of acute myeloid leukemia characterized by the t(15;17). The incidence and prognostic significance of additional chromosomal abnormalities in acute promyelocytic leukemia is still a controversial ...
José Cervera +19 more
doaj +1 more source
Frontiers in Genetics, 2023 Background: Spontaneous abortion is the most common complication of early pregnancy. In this study, we aim to investigate the clinical application value of genetic diagnosis using single nucleotide polymorphism (SNP) microarray analysis on the products ...
ShuYuan Xue +6 more
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Defective Artemis causes mild telomere dysfunction [PDF]
, 2010 This article has been made available through the Brunel Open Access Publishing Fund.Background: Repair of DNA double strand breaks by non-homologous end joining (NHEJ) requires several proteins including Ku, DNA-PKcs, Artemis, XRCC4, Ligase IV and XLF ...
Slijepcevic, P, Yasaei, H
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The use of an e-learning constructivist solution in workplace learning [PDF]
, 2009 We wished to investigate whether an e-learning approach which uses constructivist principles can be successfully applied to train employees in a highly specialised skill thought to require expert individuals and extensive prolonged training. The approach
A. Mileham +42 more
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