Updated: 1/1/2022

Inheritance Patterns of Orthopaedic Syndromes

0%
Topic
Review Topic
0
0
0%
0%
Flashcards
6
N/A
N/A
Questions
14
0
0
0%
0%
Evidence
10
0
0
0%
0%
Videos / Pods
1
Topic
Images
https://upload.orthobullets.com/topic/9024/images/autosomaldominant.jpg
https://upload.orthobullets.com/topic/9024/images/autosomalrecessive.jpg
  • Different inheritance patterns
    • Allows for specific patterns of inheritance controlled by a single gene pair (“monogenic”)
      • 4 different types of patterns
        • autosomal dominant
        • autosomal recessive
        • x-linked dominant
        • x-linked recessive
      • additional inheritance effects include
        • imprinting
        • anticipation
    • In general
      • defective structural proteins = AD
      • defective enzymes = AR
  • Pedigree Analysis
    • A pedigree chart displays a family tree and the members of the family affected by a genetic trait
    • Use
      • a pedigree chart can be used to determine the mode of transmission
      • dominance
        • whether the trait is dominant or recessive
      • linkage
        • whether the trait is X-linked or autosomal
    • Key
      • shapes
        • circles represent females
        • squares represent males
      • color
        • a black circle/square represents an individual affected by the genetic trait
        • a white circle/square represents an individual that is not affected by the trait
      • lines
        • horizontal
          • a male and female connected by a horizontal line have mated and have children
        • vertical
          • vertical lines connect parents to their children
  • Autosomal Dominant
    • Description
      • only need to get the abnormal gene from one parent in order for you to inherit the disease.
    • Examples
      • Syndactyly
      • Polydactyly
      • Marfan's syndrome
      • Cleidocranial Dysostosis
      • Hereditary Multiple Exostosis
      • Achondroplasia
      • MED
      • Metaphyseal chondrodysplasia (Schmid and Jansen types)
      • Kniest dysplasia
      • Malignant hyperthermia
      • Ehlers-Danlos syndrome
      • Osteogenesis imperfecta (types I and IV)
      • Osteochondromatosis/Multiple Hereditary Exostosis
      • Osteopetrosis (tarda, mild form)
  • Autosomal Recessive
    • Description
      • an autosomal recessive disorder means two copies of an abnormal gene must be present in order for the disease or trait to develop.
    • Examples
      • Diastrophic Dysplasia
      • Friedreich's Ataxia
      • Gaucher disease
      • Spinal muscular atrophy
      • Sickle cell anemia
      • Osteogenesis imperfecta (II and III)
      • Hypophosphatasia
      • Osteopetrosis (infantile, malignant form)
  • Sex-linked Recessive (males only)
    • Description
      • X-linked diseases usually occur in males. Males have only one X chromosome. A single recessive gene on that X chromosome will cause the disease.
    • Examples
      • Duchenne muscular dystrophy
      • Becker's muscular dystrophy
      • Hunter's syndrome
      • SED tarda
  • Sex-linked Dominant
    • Examples
      • Hypophosphatemic rickets
      • Leri-Weill dyschondrosteosis (bilateral Madelung's deformity)
  • Multiple inheritance patterns
    • Examples
      • Charcot-Marie-Tooth (AD, AR, Xlink)
      • Osteopetrosis (AD, AR)
      • Osteogenesis Imperfecta (AR, AD)
      • Neurofibromatosis (AD, AR)
      • SED (AD, Xlink)
  • Miscellaneous Genetic Inheritance
    • Imprinting
      • a genetic phenomenon by which certain genes are expressed in a parent-of-origin-specific manner
      • Examples
        • Angelman Syndrome
        • Prader-Willi Syndrome
    • Anticipation
      • a phenotype occurs earlier (and typically worse) in each subsequent generation
      • common in trinucleotide repeat disorders
Flashcards (6)
Cards
1 of 6
Questions (14)
Question locked
Sorry, this question is for
PEAK Premium Subscribers only
Upgrade to PEAK
Question locked
Sorry, this question is for
PEAK Premium Subscribers only
Upgrade to PEAK
Question locked
Sorry, this question is for
PEAK Premium Subscribers only
Upgrade to PEAK
Question locked
Sorry, this question is for
PEAK Premium Subscribers only
Upgrade to PEAK
Question locked
Sorry, this question is for
PEAK Premium Subscribers only
Upgrade to PEAK
Question locked
Sorry, this question is for
PEAK Premium Subscribers only
Upgrade to PEAK
Question locked
Sorry, this question is for
PEAK Premium Subscribers only
Upgrade to PEAK
Question locked
Sorry, this question is for
PEAK Premium Subscribers only
Upgrade to PEAK

(OBQ11.159) Which of the following genetic defects does not follow Mendelian patterns of inheritance?

QID: 3582

Defect in the fibroblast growth factor (FGF) receptor 3

7%

(301/4319)

Mutation of a gene coding for a sulfate transport protein

21%

(891/4319)

Defect in the Gs-alpha protein

45%

(1927/4319)

Defect in the fibrillin gene

9%

(368/4319)

Deficient activity of the enzyme ß-glucosidase (glucocerebrosidase)

18%

(788/4319)

L 4 B

Select Answer to see Preferred Response

(OBQ11.272) A 46-year-old female begins to have personality changes, cognitive decline, and chorea. Her father began having similar but less severe symptoms at age 55 before passing away 6 years later. One of her 2 older siblings has also begun to show deterioration. Which of the following describes the hereditary pattern of this disease?

QID: 3695

Autosomal dominant with variable penetrance

21%

(690/3243)

Autosomal recessive with variable penetrance

3%

(110/3243)

X-linked recessive

3%

(102/3243)

Autosomal dominant with anticipation

70%

(2264/3243)

Autosomal dominant with imprinting

2%

(61/3243)

L 2 B

Select Answer to see Preferred Response

Question locked
Sorry, this question is for
PEAK Premium Subscribers only
Upgrade to PEAK

(OBQ07.219) Which of the following conditions exhibit the inheritance pattern shown in Figure A, assuming no new mutations?

QID: 880
FIGURES:

Duchenne muscular dystrophy

15%

(291/1919)

Hunter's syndrome

17%

(319/1919)

Hemophilia

17%

(326/1919)

Spondyloepiphyseal dysplasia (SED) tarda

14%

(275/1919)

Diastrophic dysplasia

36%

(700/1919)

L 5 D

Select Answer to see Preferred Response

(OBQ06.228) Prader-Willi syndrome and Angelman syndrome are examples of a genetic phenomenon by which certain genes are expressed in a parent-of-origin-specific manner. What is the name of this genetic phenomenon?

QID: 239

Sex-linked dominant transmission

13%

(113/849)

Y-linked dominant transmission

1%

(12/849)

X-linked dominant transmission

9%

(77/849)

Genomic imprinting

71%

(599/849)

Mendelian inheritance

5%

(45/849)

L 2 D

Select Answer to see Preferred Response

(OBQ05.228) Which of the following is a phenomenon whereby the symptoms of a genetic disorder become apparent at an earlier age as it is passed on to the next generation?

QID: 1114

Genetic drift

4%

(34/929)

Expansion

1%

(13/929)

Mendelian inheritance

5%

(47/929)

Anticipation

87%

(806/929)

Phenotypic plasticity

2%

(21/929)

L 1 C

Select Answer to see Preferred Response

Evidence (10)
VIDEOS & PODCASTS (2)
EXPERT COMMENTS (3)
Private Note