Chapter 063 Chromosome Disorders (Part 2) potx
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...
Chapter 063. Chromosome Disorders (Part 3) pptx
... 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 .....
Chapter 063. Chromosome Disorders (Part 4) doc
... 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...
Chapter 063. Chromosome Disorders (Part 5) pptx
... 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.,...
Chapter 063. Chromosome Disorders (Part 8) ppsx
... 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,...
Chapter 063. Chromosome Disorders (Part 9) pps
... 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...
Chapter 063. Chromosome Disorders (Part 10) doc
... 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...
Chapter 110. Coagulation Disorders (Part 2) potx
...
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...
Chapter 106. Plasma Cell Disorders (Part 2) potx
... 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...
Chapter 028. Sleep Disorders (Part 2) pps
... 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
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