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Trisomy 21. Down syndrome (also known by the karyotype 47,XX,+21 for females and 47,XY,+21 for males) [98] is mostly caused by a failure of the 21st chromosome to separate during egg or sperm development, known as nondisjunction. [91] As a result, a sperm or egg cell is produced with an extra copy of chromosome 21; this cell thus has 24 ...
Transient myeloproliferative disease develops and may be of concern in fetuses. Features in a review of 39 reported fetal cases include: reduced platelet production often accompanied by significantly reduced levels of circulating platelets; reduced red blood cell production sometimes accompanied by mild anemia; increased levels of circulating megakaryoblasts and white blood cells; grossly ...
For example, people with Down syndrome have a significantly increased risk of developing forms of acute leukemia (especially acute myeloid leukemia), and Fanconi anemia is a risk factor for developing acute myeloid leukemia. [46] Mutation in SPRED1 gene has been associated with a predisposition to childhood leukemia. [54]
Used to screen for abnormalities in a developing fetus. A nuchal scan or nuchal translucency (NT) scan / procedure is a sonographic prenatal screening scan (ultrasound) to detect chromosomal abnormalities in a fetus, though altered extracellular matrix composition and limited lymphatic drainage can also be detected. [1]
Genome-wide CRISPR-Cas9 knockout screens aim to elucidate the relationship between genotype and phenotype by ablating gene expression on a genome-wide scale and studying the resulting phenotypic alterations. The approach utilises the CRISPR-Cas9 gene editing system, coupled with libraries of single guide RNAs (sgRNAs), which are designed to ...
Acute lymphoblastic leukemia (ALL) 4.0% Acute myeloid leukemia (AML) 8.7% Chronic lymphocytic leukemia (CLL) sorted under lymphomas according to current WHO classification; called small lymphocytic lymphoma (SLL) when leukemic cells are absent. 10.2% Chronic myelogenous leukemia (CML) 3.7% Acute monocytic leukemia (AMoL) 0.7% Other leukemias 3.1%
Genetics of Down syndrome. Down syndrome is a chromosomal abnormality characterized by the presence of an extra copy of genetic material on chromosome 21, either in whole (trisomy 21) or part (such as due to translocations). The effects of the extra copy varies greatly from individual to individual, depending on the extent of the extra copy ...
A myelodysplastic syndrome (MDS) is one of a group of cancers in which immature blood cells in the bone marrow do not mature, and as a result, do not develop into healthy blood cells. [3] Early on, no symptoms typically are seen. [3] Later, symptoms may include fatigue, shortness of breath, bleeding disorders, anemia, or frequent infections. [3]