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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 Disomy Chromosome nondisjunction most commonly results in trisomy or monosomy for the particular chromosome involved in the segregation error. However, less commonly, it can also lead to a disomic…

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…

Problems   1. You send a blood sample from a dysmorphic infant to the chromosome laboratory for analysis. The laboratory’s report states that the child’s karyotype is 46,XY,del(18)(q12). a. What…

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…

Problems   1. Polymorphism can arise from a variety of mechanisms, with different consequences. Describe and contrast the types of polymorphism that can have the following effects: a. A change…

References for Specific Topics Alkan C, Coe BP, Eichler EE. Genome structural variation discovery and genotyping. Nature Rev Genet. 2011;12:363–376. Bagnall RD, Waseem N, Green PM, Giannelli F. Recurrent inversion…

General References Olson MV. Human genetic individuality. Ann Rev Genomics Hum Genet. 2012;13:1–27. Strachan T, Read A. Human molecular genetics. ed 4. Garland Science: New York; 2010. 2012. The 1000…