Expression in Action
Figure 3-6 Structure and nucleotide sequence of the 5′ end of the human β-globin gene on the short arm of chromosome 11. Transcription of the 3′ to 5′ (lower) strand begins at…
Disorders and Intellectual Disability
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…
of Gene Expression
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,…
of Familial Abnormalities
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,…
Chromosome Abnormalities
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…
of Abnormalities
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…
for Specific Topics
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…
References
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…
