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Genetics and Chromos

Terms

QuestionAnswer
Angelman Syndrome A combination of birth defects caused by inheriting both copies of a section of the # 15 chromosome from the father.
Autosomal Dominant Inheritance A gene on one of the first 22 pairs of chromosomes, which, when present in one copy, causes a trait or disease to be expressed.
Autosomal Recessive Inheritance A gene on one of the first 22 pairs of chromosomes, which, when present in two copies, caused a trait or disease to be expressed.
Autosome One of the first 22 pairs of chromosomes.
Carrier A person who carries one copy of an altered gene for a particular recessive disease.
Centromere The center part of a chromosome that appears "pinched" between the p and q arms.
Chromosome A structure in the nucleus of cells, which contains genes.
Codon A triplet of three letters (base pairs) of the DNA alphabet.
Cri du Chat syndrom A rare combination of birth defects caused by a deletion of chromosomes 5p.
Cystic Fibrosis An inherited autosomal recessive condition that causes the secretion of abnormal mucus in the lungs and problems with pancreas function and food absorption.
Deletion The loss of a chromosome segment without altering the numbers of chromosomes.
Diploid Cells that contain homologous chromosomes. The number of chromosomes in the cells is the diploid number and is equal to 2n (n is the number of homologous pairs).
Down Syndrome A combination of birth defects caused by the presence of an extra #21 chromosomes.
Eukaryote A type of cell found in many organisms including single-celled protists and multicellular fungi, plants, and animals; characterized by a membrane-bounded nucleus and other membraneous organelles; an organism composed of such cells.
Fraxile-X Syndrome A combination of health problems caused by an abnormally high number of trinucleotide repeats in the FMR-1 gene.
Galactosemia An inherited recessive disorder which is a disease tested for by newborn screening. Dietary treatment is available for this disorder.
Gene A segment of DNA that produces a protein product; genes determine traits.
Haploid Cells that contain only one member of each homologous pair of chromosomes (haploid number = n). At fertilization, two haploid gametes fuse to form a single cell with a diploid number of chromosomes.
Hemizygous Having only a single copy of a gene instead of the customary two copies. All of the gene on the single X chromosomes in the male are in the hemizygous state.
Heterozygous Having two different alleles (one dominant, one recessive) of a gene pair.
Homologues A pair of chromosomes in which one member of the pair is obtain from the organism's maternal parent and the other from the paternal parent; found in diploid cells. Also commonly referred to as homologous chromosomes.
Homozygous Having identical alleles for a given gene.
Inheritance Inheritance is a word used to describe a trait given to you or "passed on" to you from one of your parent. Examples of inherited traits would be your eye color of blood type.
Karyotype A picture of the 46 chromosomes, lined up into 23 pairs.
Meiosis Definition 1- The cell division process that eggs and sperms to through with halves the chromosome number from 46 to 23. Definition 2- Cell division, in which the chromosomes replicate, followed by two nuclear divisions. Each of the resulting gametes (
Mitosis The cell division process that other cells, besides eggs and sperm go through. 2. The division of the cell's nuclear and nuclear material of a cell; consists of four stages: prophase, metaphase, anaphase, and telophase. Cell xeroxing. Mitosis occur only
Monosomy Having a single copy of a chromosome, rather than the usual pair.
Non-disjunction An error in cell division where the chromosomes fail to disjoin, so that both pass to the same daughter cell.
Phenylketonuria (PKU) An inherited recessive disorder which is a disease tested for by newborn screening and often treatable by diet.
Polysomy Congenital defect of having one or more extra chromosomes in somatic cells.
Ring chromosome A chromosome whose ends stick together to form a circle or ring.
Sex chromosomes The 23rd pair of human chromosomes which determine gender; females have two X chromosomes; males have X and Y chromosomes.
Translocation When the location of specific chromosomes material moves to another chromosomes.
Trisomy Having three copies of one chromosome, rather than two copies.
Trisomy 13 The presence of three #13 chromosomes, also known as Patau syndrome.
Trisomy 18 The presence of three #18 chromosomes, also known as Edwards syndrome.
Trisomy 21 the presence of three #21 chromosomes, also known as Down Syndrome.
Turner syndrome A combination of health problems caused by the absence of one sex chromosomes, leaving a single X chromosomes, or 45 total.
X-linked Inheritance A gene on the X chromosomes passed through a family, resulting in a specific trait or disease to be seen more commonly in males and females.
Created by: carmen26
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