Chapter 063 Chromosome Disorders (Part 2) potx

... Chapter 063. Chromosome Disorders (Part 2) Molecular Cytogenetics The introduction of FISH methodologies in the ... including chromosome- specific paints (chromosome libraries), repetitive probes, and single- copy probes (Fig. 63 -2). Chromosome libraries hybridize to sequences that span the entirety of the chromosome ... can be used to "paint" individual ch...

Ngày tải lên: 07/07/2014, 01:20

... chromosomes. Depending on the type of array (most are constructed utilizing either BACs or oligonucleotides), the resolution can be up to 150 kb, far greater than for standard chromosome ... uncultured amniotic fluid, typically using DNA probes specific for the chromosomes most commonly identified in trisomies (chromosomes 13, 18, 21, and the X and Y). These studies can be performed .....

Ngày tải lên: 07/07/2014, 01:20

... detection of mosaicism. Chromosome Abnormalities Chromosomes in Cell Division To understand the etiology of chromosome abnormalities, it is important to review the movement of chromosomes during ... chromosomes during cell division. In somatic tissues, chromosomes are replicated during the S-phase of the cell cycle, so that each replicated chromosome consists of two identical siste...

Ngày tải lên: 07/07/2014, 01:20

... Chapter 063. Chromosome Disorders (Part 5) Chromosome segregation in meiosis. A. In meiosis I, each of the 23 pairs of chromosomes finds its "partner," ... end of meiosis I, each daughter cell contains 23 chromosomes, with each chromosome consisting of two sister chromatids. B. In meiosis II, each chromosome aligns on the metaphase plate, and at ... cell (e.g.,...

Ngày tải lên: 07/07/2014, 01:20

... acrocentric chromosomes (chromosomes 13, 14, 15, 21, and 22) join together, generating a fusion chromosome that contains virtually all of the genetic material of the original two chromosomes. ... often involving chromosomes 14 and 21. In this instance, the affected individual has 46 chromosomes, including one structurally normal chromosome 14, two structurally normal chromosomes 21,...

Ngày tải lên: 07/07/2014, 01:20

... gait With Chapter 063. Chromosome Disorders (Part 9) Microdeletion Syndromes The term contiguous gene syndrome refers to genetic disorders that mimic a combination of single-gene disorders. ... abnormality involves a deletion of a part of the short arm of chromosome 11 (11p13), which typically is detectable on well-banded chromosome preparations. In MDS, a disorder c...

Ngày tải lên: 07/07/2014, 01:20

... unidentified genomic disorders from the duplication architecture o f the human genome. Nat Genet 38:1038, 2006 [PMID: 16906162] Chapter 063. Chromosome Disorders (Part 10) Deletions ... leukemias, e.g., Philadelphia chromosome translocation in CML [t(9; 22)( q34.1;q11 .2)] ; and (2) lymphomas, e.g., translocations of MYC in Burkitt's [t(8;14)(q24;q 32...

Ngày tải lên: 07/07/2014, 01:20

... congenital disorders; the most common disorders include hemorrhagic diathesis of liver disease, disseminated intravascular coagulation (DIC), and vitamin K deficiency. In these disorders, blood ... required to measure the specificity of the inhibitor and its titer. The treatment of these bleeding disorders often requires replacement of the deficient protein using recombinant or pu...

Ngày tải lên: 07/07/2014, 04:20

... Binucleate and multinucleate malignant plasma cells can be seen. Chapter 106. Plasma Cell Disorders (Part 2) Figure 106-1 Representative patterns of serum electrophoresis. The ... and 11q abnormalities predominate. The most common translocations are t(11;14)(q13;q 32) and t(4;14)(p16;q 32), and evidence is strong that errors in switch recombination—the genetic me...

Ngày tải lên: 07/07/2014, 04:20

... Chapter 028. Sleep Disorders (Part 2) Stages of REM sleep (solid bars), the four stages of NREM sleep, and wakefulness ... rapid onset of REM sleep in a young adult (particularly if <30 min) may suggest pathology such as endogenous depression, narcolepsy, circadian rhythm disorders, or drug withdrawal. NREM and

Ngày tải lên: 06/07/2014, 13:20