It is important to identify individuals and families with single gene disorders or parental chromosomal anomalies as they have the highest probability of recurrence.  This can often be made by a combination of pedigree analysis, precise clinical diagnosis and genetic testing which is becoming available for an increasing number of conditions. 
After an introductory review talk, cases will be discussed in tutorial groups.

Family histories used in the paediatric tutorial 

for recognising a family pattern as being consistent with a particular form of inheritance.

These pdf files should be used in conjunction with the question sheets which are distributed at the start of each session. They contain discussions of the genetics of the cases. 

1.         Why do people in my family fracture their bones so easily?
2.         Does Anna need medical surveillance for Marfan syndrome?
3          Will it be possible to have a test in pregnancy?
4          Please  - tell me my son does not have the same condition as my brother had
5.         What is the cause of Down syndrome in Louise?
6.         Why are there several children with Down syndrome in my family?

Obstetrics: session 2
An abnormal fetal phenotype can be caused by environmental factors, chromosomal abnormalities, specific genes or more complex genetic mechanisms. Environmental factors can also interact with a genetic predisposition to produce malformations. For most couples the finding of fetal anomalies will be unexpected, but for some there may be identifiable factors which would suggest that the couple had a high risk of a fetal anomaly. These include:

• A previous child affected with a single gene disorder;
• A family history of a single gene disorder;
• A parent having a chromosomal anomaly;
• Structural anomalies found on ultrasonography .

Family histories used in the obstetrics tutorial 
7.         I would like to known why my son had multiple malformations, and whether it is likely to happen again
8.         What is the chance that I will have another baby with a neural tube defect?
9.         Is my baby at risk of the blood disorder which my nephew and niece have?
10.       What caused my son to be only person in our family with neurofibromatosis?

Multifactorial inheritance: The basis of multifactorial inheritance