Documenti di Didattica
Documenti di Professioni
Documenti di Cultura
• Tricky
• Dry
• Highly Specialised – sometimes the patients know
more than you do
• Interesting challenge
• Hard to explain to patients
What is DNA? Gene? Kromosom?
Cell
• The basic unit of any
living organism.
• It is a small, watery,
compartment filled
with chemicals and a
complete copy of the
organism's genome.
What does Genetics mean to you?
Craniofaciocutaneous Syndrome
Mental retardation
ASD / HOCM
Icthyosis
Sparse Hair
High Forehead
Prominent ears
Depressed nasal bridge
What would you
like to know?
Family History – why do we do it?
• Think of the patient you most recently asked for a family history –
what was the situation / presenting problem?
Mendelian Non-Mendelian
• Autosomal Dominant • Imprinting
• Autosomal Recessive • Mitochondrial
• X-linked Recessive • Multifactorial
• X-linked Dominant • Sporadic
• Y-linked • Contiguous gene syndromes
Autosomal Dominant
(Adapted from The Pedigree: A Basic Guide, by Jorgenson, Yoder & Shapiro)
Autosomal Recessive
Adapted from The Pedigree: A Basic Guide, by Jorgenson, Yoder & Shapiro
Multifactorial Inheritance
Ambiguous genitalia
Establishing the Diagnosis
• Information about patient's family is obtained by skilled genetics
nurse or counselor
• Pre-clinic telephone or home visit is helpful
• Clinic visit - full examination
• Appropriate tests - chromosomes, molecular studies, referral to
specialists (neurology, ophthalmology)
• PROBLEM - Genetic Heterogeneity, and etiologic heterogeneity
After Diagnosis - What Information should be
provided?
• Medical diagnosis and its
implications in terms of prognosis
and possible treatment
• IS NON-DIRECTIVE
• Doesn’t always result in a test!