Instructions
You are a medical student on placement in the paediatric outpatient clinic. Eleni Kostas, 34, has come back for the results of genetic tests on her son Niko, 3, who is late to talk. Niko is at childcare today. The results are below.
Take a focused history from his mother
Explain the results and your management plan to his mother
- You do not need to examine Niko
- You do not need to summarise to the examiner
Paediatrician's examination at the first visit
Growth on the 50th to 75th centiles; head circumference on the 90th centile. Long face, prominent ears, soft skin, very flexible finger joints and flat feet. Heart sounds normal; no birthmarks.
Fragile X (FMR1) DNA test - Niko Kostas, blood, reported last week
| Item | Value | Reference range |
|---|---|---|
| FMR1 CGG repeat size | More than 200 repeats | 5-44 repeats |
| Repeat size category | Full mutation | Normal 5-44; intermediate 45-54; premutation 55-200; full mutation over 200 |
| FMR1 methylation | Fully methylated (gene switched off) | Unmethylated in a male |
Laboratory comment: FMR1 full mutation detected in a male; confirms fragile X syndrome. Genetic counselling is recommended for the family.
Chromosomal microarray - Niko Kostas, same sample
| Item | Value | Reference range |
|---|---|---|
| Copy number analysis | Normal male pattern; no pathogenic gain or loss | Normal |