Chapter 063 Chromosome Disorders (Part 9) pps
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...
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 2) potx
... Chapter 063. Chromosome Disorders
(Part 2)
Molecular Cytogenetics
The introduction of FISH methodologies in ... 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 chromosom...
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 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 ... recognition that not all
individuals with PWS or AS carry the chromosome 15 deletion. For such
individuals, the parental origin of the chromosome 15 region is again the
i...
Chapter 110. Coagulation Disorders (Part 9) ppsx
... involved in vitamin
K metabolism, notably the GGCX or VKOR-1 (see above), results in bleeding
disorders. The amount of vitamin K in the diet is often limiting for the
carboxylation reaction, ...
replacement with FFP or PCC is required. PCC should be avoided in patients with
severe underlying liver disorders due to high risk of thrombosis. The reversal of
excessive anticoagulant therap...
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 ... 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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