Figure 6-19 Model for impact of genetic or genomic changes on an individual’s cognitive, neurobehavioral, and motor development. Here, the observed profile of abilities in probands (solid boxes) shows the deleterious effect…
Figure 3-5 Flow of information from DNA to RNA to protein for a hypothetical gene with three exons and two introns. Within the exons, purple indicates the coding sequences. Steps include transcription,…
Segregation of Familial Abnormalities Although most of the idiopathic abnormalities just described are sporadic, other clinical presentations can occur because of unbalanced segregation of familial chromosome abnormalities. In these cases,…
Figure 6-6 Idiopathic deletion syndromes. A-C, Three different children with cri du chat syndrome, which results from deletion of part of chromosome 5p. Note, even among unrelated individuals, the characteristic facies with…
Uniparental disomyRecurrent chromosomal syndromesRecombination at segmental duplicationsDuplication/deletion syndromesCopy number variationIdiopathic chromosome abnormalitiesSporadic, variable breakpointsDeletion syndromes (cri du chat syndrome, 1p36 deletion syndrome)De novo balanced translocationsGene disruptionUnbalanced familial abnormalitiesUnbalanced segregationOffspring of…
References for Specific Topics Baldwin EK, May LF, Justice AN, et al. Mechanisms and consequences of small supernumerary marker chromosomes. Am J Hum Genet. 2008;82:398–410. Coulter ME, Miller DT, Harris…
General References Gardner RJM, Sutherland GR, Shaffer LG. Chromosome abnormalities and genetic counseling. ed 4. Oxford University Press: Oxford, England; 2012. Shaffer LG, McGowan-Jordan J, Schmid M. ISCN 2013: an…
Chromosome and Genome Analysis in Cancer We have focused in this chapter on constitutional chromosome abnormalities that are seen in most or all of the cells in the body and…
