RBMIS28 Practice Exam Sample Only Amlicted Male Normal Male O Normal FemaleAffic

Question

RBMIS28 Practice Exam Sample Only Amlicted Male Normal Male O Normal FemaleAfficted Female 1. Using the pedigree above answer the follewing questions:(2 marks a) b) c) What type of inheritance is this trait? Identify, by numbers, any known carriers Is number 5 homozygous or heterozygous for the trait? Are there any male carriers? d) 2. Describe the type of inheritance, primary gene or protein defeet and the resulting phenotype and symptoms for Down's Syndrome. (3 marks) Prepared by: Dr Melanie Sullivan-Gunn 2013

Explanation / Answer

People with translocation genetic material can inherit the condition from affected parents there is balanced translocation i.e, rearrangement of genetic material from chromosome 21 and other chromosome..

Mosaism results from mitotuc nondisjucnction chromosome 21 during an early stage of embryogenesis.

Phenotype -46 XX or 47 XX

Symptoms of down syndrme -mental retardation ,epicanthic folf ,simian crease , epicanthic fold ,abudant neck skin ,flat facial profile,intestinal stenosis,hypotonia,predispose to leukemia ,congeniatal heart defect

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