Term
|
Definition
|
|
Term
|
Definition
| reverse banding from Giesma (needs heat) |
|
|
Term
|
Definition
| highlights centromeres; removes proteins |
|
|
Term
| two arms of chromosomes are roughly equal in length |
|
Definition
|
|
Term
| arms' lengths of chromosome are unequal |
|
Definition
|
|
Term
| the p (short) arm is so short that it is hard to observe, but still present, then the chromosome |
|
Definition
|
|
Term
| chromosome's centromere is located at the terminal end of the chromosome |
|
Definition
|
|
Term
| crossover of genetic material can occur between chromatids, in areas known |
|
Definition
|
|
Term
| crossing over occurs during |
|
Definition
|
|
Term
| about how many crossing over events occur during meiosis |
|
Definition
| 30-40 or about 1-2 per chromosome |
|
|
Term
| is the number and appearance of chromosomes in the nucleus of an eukaryotic cell |
|
Definition
|
|
Term
| short arm of chromosome represented by |
|
Definition
|
|
Term
| long arm of chromosome represented by |
|
Definition
|
|
Term
|
Definition
| Deletion of chromosome material |
|
|
Term
|
Definition
| Derivative, a structurally rearranged chromosome |
|
|
Term
|
Definition
| Duplication of a part of a chromosome |
|
|
Term
|
Definition
| Insertion of DNA into a chromosome |
|
|
Term
|
Definition
| Inversion of the DNA within a chromosome |
|
|
Term
|
Definition
| A designation to indicate mosaicism; two different types of cells within one individual |
|
|
Term
|
Definition
| Translocation; the regions which are translocated are described after the t symbol |
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
| Placed before the chromosome number, additions or deletions of a whole chromosome |
|
|
Term
| A human cell with a multiple of 23 chromosomes is |
|
Definition
|
|
Term
| If a cell does not contain a multiple of 23 chromosomes, it is |
|
Definition
|
|
Term
| In most cases, polyploidy is caused by |
|
Definition
| fertilization of the same ovum by two or more sperm |
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
| most common cause of aneuploidy is |
|
Definition
| non-disjunction usually in eggs during meiosis I |
|
|
Term
| mitotic non-disjunction is also known as |
|
Definition
|
|
Term
| if inversion includes centromere |
|
Definition
|
|
Term
| if inversion doesn't include centromere |
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
| What are the 3 common trisomies of the autosomes? |
|
Definition
| 13 (Patau's syn), 18 (Edwards' syn), and 21 (Down syn) |
|
|
Term
| result when there is abnormal centromere division, which may result in either duplication of the short arm and deletion of the long arm (iso-p), or a duplication of the long arm and deletion of the short arm (iso-q). There is a loss of genetic material with these chromosomes |
|
Definition
|
|
Term
| The resulting chromosomes of reciprocal translocation is |
|
Definition
|
|
Term
| Such translocations occur between acrocentric chromosomes (13, 14, 15, 21, 22). The short arms are lost, and one long fused chromosome is generated. The genes lost from the short arms are primarily rRNA genes, which are duplicated elsewhere in the chromosome, such that carriers are phenotypically normal. Such individuals will have a karyotype of 45 chromosomes. This leads to problems with gamete formation |
|
Definition
| Robertsonian Translocation |
|
|
Term
| If a family has a lot of stillbirths, you should consider this genetic problem |
|
Definition
| one of the parent's might have a translocation |
|
|
Term
| What technique would you use to see if there is a microdeletion syndrome? |
|
Definition
|
|
Term
Disorders due to a small (less than 5 megabases) chromosomal deletion; very complex phenotypes observed
Multiple genes are lost via the deletion, which leads to monosomy for a number of genes |
|
Definition
|
|
Term
| Angelman and Prader Willi syndromes are example (15q11) |
|
Definition
|
|
Term
Gold Standard
0.5% risk of procedure-induced pregnancy loss
Perform at 15-16 weeks gestation
Amniotic fluid is obtained using ultrasound to guide the placement of the needle in the uterus
Remove amniotic cells, culture in lab, do cytogenetics study |
|
Definition
|
|
Term
| Methods to obtain fetal cells for cytogenetic study include |
|
Definition
1) Amniocentesis
2) Chorionic Villus Sampling
3) Cordocentesis |
|
|
Term
Performed at 10-12 weeks gestation
Has a 0.5% risk of procedure induced pregnancy loss
Removed cells are from the placenta (chorion), although they are contaminated with maternal cells. Ultrasound is used to guide needle placement. A separation procedure is required to remove maternal cells from the sample
Cells are grown in the lab and analyzed |
|
Definition
| Chorionic Villus Sampling |
|
|
Term
Umbilical blood sampling; used if inconclusive results are obtained by other procedures
Ultrasound guides needle into the umbilical artery (obtain blood instead of amniotic fluid)
Performed after 18 weeks of gestation
Has a high rate of fetal loss: 1-2%
Advantage is less time is required to obtain results (blood cells grow more rapidly) |
|
Definition
|
|
