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- GLOSSARY -

Page history last edited by Shamel Wellington 8 years ago

 

Beckwith-Wiedemann Syndrome Glossary 

 

 

Abdominal wall defect An opening in the abdomen through which various abdominal organs can protrude.

 

Diastasis recti A separation between the left and right side of the rectus abdominal muscle, which covers the front surface of the belly area.

 

Gene sequence The exact order of nucleotides found in a DNA molecule.

 

Hemihyperplasia A genetic disorder characterized by overgrowth of one side of the body in comparison with the other.

 

Hepatoblastoma A malignant liver neoplasm occurring in infants and children and composed of tissues resembling fetal liver cells, mature liver cells or bile duct cells.

 

Hypoglycemia A condition characterized by abnormally low blood glucose levels usually less than 70mg/dL.

 

Imprinting centers Regions of DNA that regulate the expression of imprinted genes in cis over large distances and show differential methylation of the parental alleles.

 

Macroglossia An abnormally large tongue that usually interferes with breathing, swallowing and speaking.

 

Macrosomia A condition in which a baby is abnormally large before birth.

 

Methylation The transfer of methyl groups to biological components such as DNA and is involved in gene expression regulation process.

 

Microsatellite DNA sequences made up of a large number of varying short repeats.

 

Mutation An alteration a gene sequence due to deletion, substitution, or inversion.

 

Neoplasia The process of developing tumors.

 

Omphalocele A congenital defect with major fissure in the abdominal wall at the umbilicus resulting in the extrusion of viscera through the umbilicus.

 

Pedigree Analysis/Inheritance The study of a trait which is passed on in a set of individuals that a genetically linked to each other.

 

Umbilical Hernia A soft out-pouching around the belly-button.

 

Uniparental disomy The occurrence of obtaining one chromosome from one parent and receiving another pair from the other parent.

 

Visceromegaly Abnormally large abdominal organs.

 

Wilms’ tumor Rare kidney cancer which develop in young children between 3-4 years.

 

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