PEDIGREE INTERPRETATION: DR BARKAT SHAIKH

Family trees are confusing, but not that difficult.

Two questions should be in your mind to answer.

Is every generation affected?
Yes= Dominant
No= Recessive

Is there male to male (father to son) transmission?

Yes= Autosomal
No= X-linked

Autosomal Dominant Inheritance:

Characteristics/ Key features:
Male to male transmission
All generations are affected
Both sexes are equally affected
The transmission stops with an unaffected person
No carrier state
Recurrence risk is 50%
In some cases, family history seems to be completely negative and the affected individual
appears to be first abnormal case….point mutation

Examples:
Hereditary spherocytosis
Von Willebrand disease
Tuberous sclerosis
Acute intermittent porphyria
Marfan syndrome
Noonan syndrome
Hypochondroplasia
X-Linked Dominant Inheritance:
Characteristics/ Key features:
All generations are affected
No male to male transmission
Most cases will be female
No carrier state

Risk for offspring:

Affected father … All sons healthy & All daughters affected
Affected mother: If heterozygous …. 1:2 children affected
If homozygous .… All children affected

Examples:
Fragile X syndrome
Incontinentia pigmenti
X-linked hypophosphatemia
Aicardi syndrome
Rett syndrome

Autosomal Recessive Inheritance:

Characteristics/ Key features:
Both parents are carriers and clinically normal
Male to male transmission
Not every generation is affected
Both sexes are equally affected and only homozygotes are affected

Risk for offspring:

One parent carrier….. 50% carrier, 50% normal
One parent affected ... All (100%) children are carrier
Both parents carrier:… 50% carrier, 25% affected & 25% normal
One parent affected and one carrier …. 50% either carrier or affected

Examples:
Cystic fibrosis
Sickle cell anemia
Galactossemia
Wilson disease
Beta-thalssemia
Hurler syndrome
Acrodermatitis enteropathica
Abetalipoproteinemia
X-Linked Recessive Inheritance:
Characteristics/ Key features:
Affected gene is located in the X chromosome
Usually one generation skipped
Only males affected and females usually carriers only

Risk for offspring:

Mother carrier….Sons: 50% affected and 50% normal
Daughters: 50% carrier and 50% normal
Father affected….All sons healthy, All daughters carrier
A female can only be affected if father affected and mother carrier.

Examples:
Red-green colour blindness
Hemophilia A &B
Duchenne muscular dystrophy
Becker’s muscular dystrophy
Adrenoleukodystrophy
Hunter syndrome
Alport syndrome
Wiskott-Aldrich syndrome

Mitochondrial Inheritance:
Do not forget the mitochondrial inheritance which comes only from mothers.
Mothers affects all of her sons and daughters 100%.
Father does not affect any of offspring.

Examples:
Pearson syndrome
Infantile myopathy and lactic acidosis
Leigh syndrome
MELAS = Mitochondrial Encephalomyopathy with lactic acidosis and Stroke-like episodes
MERRF= Myoclonic Epilepsy with Ragged-Red Fibers