Inheritance
Figure 7-16 Pedigree showing inheritance of dyschondrosteosis due to mutations in SHOX, a pseudoautosomal gene on the X and Y chromosomes. The arrow shows a male who inherited the trait on…
Inheritance
− Represents no reaction; + represents reaction. RBC, red blood cell. A feature of the ABO groups not shared by other blood group systems is the reciprocal relationship, in an…
and Concepts
Figure 7-1 The concepts of genotype and phenotype. (Left) The genotype refers to information encoded in the genome. Diagram of one pair of homologous chromosomes and two loci on that chromosome, Locus…
for Specific Topics
References for Specific Topics Bartolomei MS, Ferguson-Smith AC. Mammalian genomic imprinting. Cold Spring Harb Perspect Biol. 2011;3:a002592. Baxter R, Vilain R. Translational genetics for diagnosis of human disorders of sex…
References
General References Achermann JC, Hughes IA. Disorders of sex development. Melmed S, Polonsky KS, Larsen PR, Kronenberg HM. Williams textbook of endocrinology. ed 12. WB Saunders: Philadelphia; 2011:886–934. Gardner RJM,…
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,…
