CASE 3: Ashley is 32 years old and considering having a baby. She is concerned a

Question

CASE 3: Ashley is 32 years old and considering having a baby. She is concerned about her chance to have a child with retinoblastoma. Use the NCBI Geneeviews for information about this syndrome http:/lwww.ncbi.nlm.nih gov/books/NBK1452 89 diabetesheart ease 67 64 AB 2 MEL 55 unilateral enucleation no radiation 34 32 RB 1 SARC 16 radiation L eye enucleation R eye MEL-Melanoma; RB-retinoblastoma; SARC-sarcoma Based on the pedigree, would you classify her risk for inherited retinoblastoma low, moderate or high? List 3 aspects of the family and medical history that support your conclusion.

Explanation / Answer

Retinoblastoma is explained as 2 hit hypothesis in inherited forms

The first hit in the germ line so it present in all the cells of body

The second hit was necessary for promoting the tunour

In somatic forms both mutations arise sonatically in the same cell

About 10% cases of retinoblastoma children have positive family history

Ashley affected with retinoblastoma early onset bilateral suggesting hereditary form of retinoblastoma

Where her mother having unilateral late onset suggesting the sporadic form

So as Ashley contains already mutated forms

Her daughter is at high risk of retinoblastama so genetic screening is adviced

And a positive family history suggestive to more risk

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