- In genetics clinic, you are counseling five pregnant women who inquire about their risk for having a Down syndrome fetus. What are their risks and why?a. a 23-year-old mother of a previous trisomy 21 child b. a 41-year-old mother of a previous trisomy 21 child c. a 27-year-old woman whose niece has Downsyndromed. d. a carrier of a 14;21 Robertsonian translocatione. e. a woman whose husband is a carrier of a 14;21Robertsonian translocation
- A young girl with Down syndrome is karyotyped and found to carry a 21q21q translocation. With use of standard cytogenetic nomenclature, what is her karyotype?
- A baby girl with ambiguous genitalia is found to have 21-hydroxylase deficiency of the salt-wasting type. What karyotype would you expect to find? What is the disorder? What genetic counseling would you offer to the parents?
- The cells of a multicellular organism become specialized for particular tasks and communicate with one another to maintain homeostasis
- Polyploidy is common in nature and provides a major mechanism for adaptation and speciation.Approximately 50-70% of angiosperms, which include many crop plants, have undergone polyploidy during their evolutionary process.
- majority of skin is made up of what layer?
- both melanocytes and langerhans cells are _______________ cells
- stratified squamous epithelium present in what layer?
- Mutating p53 makes the cell genetically ______________
- when ____ is bound to Rb,E 2F is _________________ from activating transcriptional
- The development of __________ dimers in DNA is characteristic of UVR induced damage
- if the process of melanocyte migration into skin from neural crest is disturbed, what can it cause?
- Changes in adhesion are essential for _____
- Tumour DNA/RNA may be extracted for __________ tests
- Deregulation of both ___________ allows telomerase to overcome replicative senescence
- if mutations occur in coding regions, what are they termed?
- p53 is a protein with a ___________ half life present, in the normal situation, in very _________ concentrations in cells.
- tumour suppressor genes - BOTH alleles must be _________ or __________ or _______________
- granular layer - cells are _________ differentiated
- oncogene activated can be detected by __________ which can induce the _______ pathway