Paediatric genetics topics for General Physicians
How genetics is tested
Written for DHA, SMLE, DOH, QCHP, OMSB, MOH, NHRA and Kuwait MOH — the same GP licensing mix, not a genetics specialist paper.
Genetics on GP papers is recognisable syndromes and the first confirmatory test — not microarray interpretation fellowships.
Down syndrome: look, then the heart and the duodenal atresia association. Turner is the short girl with a wide neck and coarctation risk.
Consanguinity stems appear in Gulf papers. Know when to offer genetic counselling vs when the diagnosis is already clinical.
First test in suspected Down syndrome?
Karyotype (or the rapid aneuploidy test the stem names). Do not skip cardiac evaluation once the diagnosis is likely.
Why is consanguinity in the history?
Autosomal recessive disease risk. The exam wants you to think metabolic and familial, not to lecture on population genetics.
Fragile X — typical stem?
Developmental delay in a boy, large ears/jaw later, family of similar males. DNA analysis, not a casual reassurance.
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