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 .....

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

... 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...

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

... 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 (11p 13), which typically is detectable on well-banded chromosome preparations. In MDS, a disorder...

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 ... 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...

Ngày tải lên: 07/07/2014, 01:20

... 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...

Ngày tải lên: 06/07/2014, 13:20

... 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...

Ngày tải lên: 06/07/2014, 13:20

... 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,

Ngày tải lên: 06/07/2014, 15:21