... FISH using chromosome 13 (green) and chromosome 21 (red) unique sequence probes on interphase cells from direct amniotic fluid preparations In "A" (a normal cell), two signals for both chromosomes ... In "A" (a normal cell), two signals for both chromosomes 13 and 21 are seen; in "B," three signals for chromosome 21 are seen, indicating trisomy 21 in the fetus C Aneuploidy detection: Two-color ... microdeletion of chromosome 22 associated with velocardiofacial (VCF) syndrome A probe for ARSA (a locus on the distal portion of chromosome 22, visualized as a green signal) is observed on both chromosomes...
... individual chromosomes This technology is useful in the identification of unknown chromosome material (such as markers of duplications) but is most commonly used with the complex rearrangements seen ... 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 ... to normal 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...
... the second trimester PUBS is also used when cytogenetic results from amniocentesis need clarification, such as in the detection of mosaicism Chromosome Abnormalities Chromosomes in Cell Division ... Division To understand the etiology of chromosome abnormalities, it is important to review the movement of 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 sister chromatids When the cell enters mitosis, each of the 46 chromosomes align on the metaphase plate, with...
... additional (trisomy) or missing (monosomy) chromosomes, or those with one (triploidy) or two (tetraploidy) additional sets of chromosomes Structural chromosome abnormalities are much less common, ... homologous chromosomes pair and exchange genetic material, then align on the metaphase plate, and finally separate from one another Thus, by the end of meiosis I, only 23 of the original 46 chromosomes ... Chromosome segregation is more complicated in germ cell division, since the number of chromosomes must be reduced from 46 to 23 in the mature...
... 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 ... most 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, and ... hereditary form of chromosome abnormality Rearrangements may involve exchanges of material between different chromosomes (translocations) or loss, gain, or rearrangements of individual chromosomes (e.g.,...
... deletion involves chromosome 17 (17p13) Using FISH, 17p deletions have been detected in >90% of patients with MDS ... syndrome (dup) macroglossia, occasionally omphalocoele associated with "paternal uniparental disomy" (see text) Retinoblastoma 13q14.11 (del) Retinoblasto ma due No to obvious effect, homozygous loss ... hypogonadism, prototypic mental retardation imprinting disorder text) Angelman 15q11-13 Ataxic gait With (see syndrome (del) Prader-Willi syndrome, prototypic imprinting disorder text) α-Thalassemia and...
... known that cytogenetically detectable deletions of chromosome 15 occur in a proportion of patients with PWS, as well as in those with AS This seemed curious, as the clinical manifestations of ... 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 important determinant In PWS, ... no paternal chromosomes 15 [maternal uniparental disomy (UPD)], whereas for some nondeletion AS patients the reverse is true (paternal UPD) This indicates that at least some genes on chromosome...
... analysis Chapter - Problem findings on recruitment and retention at MDC This chapter states the problem findings, problem analysis and also problem definition of recruitment and retention at MDC Chapter ... Recommendations 1.8 Research structure Chapter - Introduction This chapter gives the general introduction to the problem that Mai Dong Mechanical Company has been facing and also the research theoretical ... and benefit analysis vi Chapter - Introduction The first chapter will start with the introduction to the problem that Mai Dong Mechanical Company has been facing and also the research design...
... 179 Chapter 9: Working with Selections and Selection Layers You can also take any visible selection layers you have and add them to or subtract them from an existing image layer selection (See ... moiré effect (unwanted patterns that appear in screen tones — see the “No more moiré” sidebar later in this chapter. ) Having vector tones also means that you aren’t married to a particular setting; ... 9-24.) This works like changing the Selection Type of a selection tool (See the “Additional functions” section, earlier in this chapter, for an explanation.) You can use either of these functions...
... scale the path, and convert the path back to a selection SeeChapter 11 for info on paths.) 13 327258-ch08.qxp 8/20/08 3:08 PM Page 173 Chapter 8: Fine-Tuning Your Fixes ߜ Contract: The Contract ... appears when the alpha channel is active and the RGB channel is also visible Also take a look at the difference in the Channels panel See the eyeball column on the left? Figure 8-15: When you already ... that restricting You can also use selections for a variety of other jobs in Photoshop One of the most common is copying from one image and pasting into another You can see one example in Figure...