BuyQualityEssays.com – ORDER 100% ANSWERED QUESTION…Working in pairs, you will assume the role of a medical cytogeneticist and aid in the diagnosis of various genetic diseases.

 
Working in pairs, you will assume the role of a medical cytogeneticist and aid in the diagnosis of various genetic diseases. Each group should try to get through as many case studies as possible.
 

Each group should receive several blank copies of the Cytogenetics Report to be filled out for each case study.

 

Each Chromoscan Board contains a single case study, is color-coded and is associated with the colored chromosome decals. For example, Case Study A is pinkish purple. Never mix and match Chromoscan Boards and decals.

 

Randomly select one of the chromosome decals and make a sketch of the chromosome on the Cytogenetics Report. Be sure to label the centromere, telomere, p arm, and q arm. Also make note if the chromosome is metacentric, submetacentric, acrocentric, or telocentric.

 

Record all the relevant information from the case study on the report.

 

To create the karyotype you will match the correctly colored chromosome decals with the chromosomes already present on the Chromoscan Board. In other words, your goal is to correctly pair homologous chromosomes.

 

Once the karyotype is created, analyze it for any chromosomal abnormalities (e.g. inversions, translocations, deletions, insertions, duplications).

 

Report your findings on the Cytogenetics Report.

 

To diagnose the patient, refer to the table below and write the diagnosis on the Cytogenetics Report.

 

Using your smartphones, provide additional clinical information (in addition to what is presented in the case study) about the disease on the Cytogenetics Report.

 

Remove chromosome decals and randomly place them in the cryostorage region of the Chromoscan Board.

 

Repeat procedure for additional case studies. Do not share answers with other groups!

 
 
 
 
 
 
 
 
 
 
 
 

Diagnostic Table
 
 

Karyotype Findings
Diagnosis

No abnormalities found
None

Trisomy 21
Down syndrome

XXX
Trisomy X female

Inversion on chromosome 3 involving p
Not associated with any known disease

arm, centromere and q arm
 

Trisomy 18
Edwards syndrome

Trisomy 13
Patau syndrome

Reciprocal translocation with
Chronic myelogenous leukemia

chromosomes 9/22
 

Robertsonian translocation (fusion of
Down syndrome

chromosome arms) with chromosomes
 

14/21
 

XXY
Klinefelter syndrome

XYY
XYY male

5p deletion
cri du chat

Monosomy X
Turner syndrome

Inversion on chromosome 9
Not associated with any known disease

 
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