The state in which there is an abnormal number of CHROMOSOMES: for example, DOWN’S (DOWN) SYNDROME and TURNER’S SYNDROME.
n. the condition in which the chromosome number of a cell is not an exact multiple of the normal basic (haploid) number. See monosomy; trisomy. Compare euploidy. —aneuploid adj., n.
(CDH) herniation of the fetal abdominal organs into the fetal chest, which occurs in one in 2000–5000 live births. This leads to pulmonary *hypoplasia, which is the main cause of the associated high neonatal mortality. The risk of pulmonary hypoplasia is substantially greater where there is herniation of the liver into the thoracic cavity. CDH is commonly associated with additional structural abnormalities (cardiac, neural tube defects, and exomphalos), and the risk of chromosomal abnormality (*aneuploidy) is 10–20%. Demonstration of a fluid-filled bowel at the level of the heart on ultrasound is diagnostic.... congenital diaphragmatic hernia
n. the condition of cells, tissues, or organisms in which there is one complete set of chromosomes or a whole multiple of this set in each cell. Compare aneuploidy. —euploid adj., n.... euploidy
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