Chromosomes from Patient 1 are obtained from the nearly-full-term fetus of a forty year old female. Chromosomes were obtained from

Chromosomes from Patient 1 are obtained from the nearly-full-term fetus of a forty year old female. Chromosomes were obtained from fetal epithelial cells acquired through amniocentesis. 2, 5, 12 and 16 do not have a homologous pair

Chromosomes from Patient 1 are obtained from the nearly-full-term fetus of a forty year old female. Chromosomes were obtained from fetal epithelial cells acquired through amniocentesis. 2, 5, 12 and 16 do not have a homologous pair.

Patient 1

Chromosomes from Patient 1 are obtained from the nearly-full-term fetus of a forty year old female. Chromosomes were obtained from fetal epithelial cells acquired through amniocentesis. 2, 5, 12 and 16 do not have a homologous pair.

1. Make the karyotype

Place the chromosomes in the partially completed karyotype below by matching it to its homologous chromosome: explain why the chromosome you chose is unknown`s pair.

20 + 5 marks

2.Write down the correct karyotype

10 marks

1. What would be your diagnosis and why?

Describe and evaluate the phenotype, molecular aetiology, clinical picture, clinical outcome and prognosis.

15 marks

Patient 2

Chromosomes were obtained from nucleated white blood cells. Patient 2 is a 28 year old male who is seeking to identify a cause for his infertility. 3, 10, 11, 14, 20 and 21are unpaired. Hint: Infertility is usually caused by a problem with sex chromosomes.

1. Make the karyotype

        Place the chromosomes in the partially completed karyotype below by matching it to its homologous chromosome : explain why the chromosome you choose is unknown’s pair

35 + 5 marks

1. Write down a correct karyotype

10 marks 

1. What would be your diagnosis and why?

Describe and evaluate the phenotype, molecular aetiology, clinical picture, clinical outcome and prognosis.

15 marks

Patient 3

Chromosomes were obtained from a tissue sample of a neonate who died shortly after birth, with a multitude of anomalies, including polydactyly and a cleft lip.

1. Make the karyotype

Place the chromosomes in the partially completed karyotype below by matching it to its homologous chromosome: explain why the chromosome you chose is unknown`s pair.

40 + 5 marks

1. Write down a correct karyotype

10 marks

1. What would be your diagnosis and why?

Describe and evaluate the phenotype, molecular aetiology, clinical picture, clinical outcome and prognosis.

15 marks