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 GeneReviews for information about this syndrome: http://www.ncbi.nlm.nih.gov/books/NBK1452/ 89 74 diabetesheart disease 67 64 RB 2 MEL 55 unilateral enucleation no radiation 32 RB 1 SARC 16 radiation L eye enucleation R eye 34 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

It is autosomal dominant disorder.her risk for inherited retinoblastoma is low. Because she is carrier of this disease and she carry a defected allele from her mother. But the inheritance also depend on her husband' s allele. If he also carry defective allele than there is high risk of inheritance of that diseases. because one allele from each parent transfer to their child.

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