Chapter 063 Chromosome Disorders (Part 3) pptx
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 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 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 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 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 (11p 13), which typically is
detectable on well-banded chromosome preparations. In MDS, a disorder...
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 024. Gait and Balance Disorders (Part 3) pptx
...
demonstrates the extent and topography of cerebellar atrophy. A short expansion
Chapter 024. Gait and Balance Disorders
(Part 3)
Parkinsonism and Freezing Gait
Parkinson's disease (Chap. 366) ... gives the gait a dancing quality.
Tardive dyskinesia is the cause of many odd, stereotypic gait disorders seen in
chronic psychiatric patients.
Frontal Gait Disorder
Frontal...
Chapter 028. Sleep Disorders (Part 3) pot
... impaired performance evident in night-
shift workers and airline travelers.
Chapter 028. Sleep Disorders
(Part 3)
Physiology of Circadian Rhythmicity
The sleep-wake cycle is the most evident ... other clock genes) by a heterodimer of
the transcription factors CLOCK and BMAL1 (also called MOP3) bound to an E-
box DNA regulatory element. The Per1 transcript and its product, the c...
Chapter 041. Weight Loss (Part 3) pptx
... Chapter 041. Weight Loss
(Part 3)
Approach to the Patient: Weight Loss
Before extensive evaluation is undertaken, ...
important.
The review of systems should focus on signs or symptoms that are
associated with disorders that commonly cause weight loss. These include fever,
pain, shortness of breath or cough,
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