See discussions, stats, and author profiles for this publication at: https://www.researchgate.

net/publication/370553721
Genetic Pedigree Chart Interpretation
Presentation · May 2023
DOI: 10.13140/RG.2.2.33160.29444
CITATIONS READS
0 1,002
1 author:
Mohammed Hussein Assi
Al-Mustansiriya University
16 PUBLICATIONS 7 CITATIONS
SEE PROFILE
All content following this page was uploaded by Mohammed Hussein Assi on 05 May 2023.
The user has requested enhancement of the downloaded file.
 Pedigree Charts
The Family Tree of Genetics

Dr. Mohammed Hussein

M.B.Ch.B, MSC, PhD, DCH (UK), MRCPCH
 Mendelian Disorders

1. Autosomal Dominant Disorders

2. Autosomal Recessive Disorders
3. X-linked Dominant Disorders
4. X-linked Recessive Disorders

Over 6000 disorders have been described

 Autosomal Dominant Inheritance

Normal Affected Homozygous Affected

Usually
Fatal
Autosomal dominant inheritance

• Every affected individual has an affected

parent

• 50% chance of inheriting the abnormal gene

from affected parent
 Examples of autosomal dominant disorders
Autosomal dominant disorders often affect structural proteins
• Familial hypercholesterolemia
• Achondroplasia (Dwarfism)
• Marfan syndrome
• Osteogenesis Imperfecta (brittle bone disease)
• Ehlers–Danlos syndrome
• Neurofibromatosis
• Myotonic dystrophy
• Huntington disease
• Noonan syndrome
• Otosclerosis
• Polyposis coli
• Tuberous sclerosis
 Autosomal Recessive Inheritance

Normal Normal Affected

Carrier
Autosomal recessive inheritance

• Disease transmitted from two unaffected

(carrier) parents

• Two carrier parents have a 25% risk of having an

affected child

• Risk of these disorders is increased by

consanguinity and within specific populations
Autosomal recessive inheritance

• Skipped generations
 Examples of autosomal recessive disorders
Autosomal dominant disorders often affect metabolic pathways
• Thalassemia
• Sickle cell disease
• Cystic fibrosis
• Phenylketonuria
• Galactosaemia
• Glycogen storage diseases
• Tay–Sachs disease
• Hurler syndrome
• Congenital adrenal hyperplasia
• Friedreich ataxia
• Oculocutaneous albinism
• Werdnig–Hoffmann disease (SMA I)
 X-linked Recessive Inheritance
Seen much more commonly in males than in females
Exp: Hemophilia A in Baghdad-2019 ( 97% males, 3% females)

Females Males
Normal Unaffected Homozygous
Carrier affected Normal Affecte
d

Very rare
Usually
fatal
X-linked recessive inheritance

• 50% of sons are affected

• 50% of daughters are carrier

X-linked recessive inheritance

• All daughters are carrier

• All sons are normal

No male-to-male transmission
 Examples of x-linked recessive disorders

• G6PD deficiency
• Hemophilia A and B
• Duchenne muscular dystrophy
• Becker muscular dystrophy
• Fragile X syndrome
• Hunter syndrome
• Colour blindness
 X-linked dominant inheritance
Seen much more commonly in females than in males

Females Males
Homozygous
Normal Affecte Normal Affecte
affected
d d

Very rare
Usually
fatal
X-linked dominant inheritance

• 50% daughters are affected

• 50% sons are affected

X-linked dominant inheritance

• All daughters are affected

• All sons are normal No male-to-male transmission

 Examples of X-linked dominant disorders

• Vitamin D resistant rickets (X-linked hypophosphatemia)

• Rett syndrome
• Fragile-X Syndrome
• Alport syndrome
• Incontinentia pigmenti
 Pedigree Chart
 Is a chart that diagrams the inheritance of a trait or health
condition through generations of a family.
 Essential part of genetic evaluation
Male Affected
Male

Female Affected Female

Unrelated marriage Consanguineous marriage

Generation I

Generation II

Generation II
Generation I

Generation II

Generation III
Generation I

Generation II

Generation II
Generation I

Generation II

Generation II
 Determining the Mode of Inheritance in a
Pedigree
1st Determine if the inheritance is Dominant or Recessive?

2nd Determine if the inheritance is Autosomal or X-linked?

1st Determine if the inheritance is Dominant or Recessive?

Multiple generations affected Skipped generations

Dominant Recessive
2nd Determine if the inheritance is Autosomal or X-linked?
Recessive
Only (or almost only) males are affected?

Yes No

X-linked Recessive Autosomal Recessive

2nd Determine if the inheritance is Autosomal or X-linked?
Dominant
Q.1: Is there male to male transmission?
Q.2: Are all daughters of an affected male affected?

Q.1→Yes Q.1→No
Q.2→Yes
Autosomal Dominant X-linked Dominant
 Skipped generations → Recessive

Autosomal Recessive X-linked Recessive

 Multiple generations → Dominant

Autosomal Dominant X-linked Dominant

 Mitochondrial Inheritance

Pedigrees for mitochondrial diseases display a distinct mode of inheritance:

1. Transmission of the disease is only from a female.

2. All offspring of an affected female are affected.
3. None of the offspring of an affected male is affected.
Autosomal Dominant
X-linked Recessive
X-linked Dominant
Autosomal Recessive
Mitochondrial
Autosomal Dominant
Incomplete Penetrance
View publication stats