Inherited Disorders (Subscribe)
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Autosomal Dominant Disorders POSNA Study Guide
Objectives
1. Define autosomal dominance
2. Describe the method of transmission of autosomal disorders, and the distinguishing features of a pedigree of an autosomal dominant disorder
3. List 3 relatively common autosomal disorders seen in orthopaedic practice
1. Define autosomal dominance
2. Describe the method of transmission of autosomal disorders, and the distinguishing features of a pedigree of an autosomal dominant disorder
3. List 3 relatively common autosomal disorders seen in orthopaedic practice
Autosomal Recessive Disorders POSNA Study Guide
Objectives
1. Define autosomal recessive
2. Describe the characteristics of a pedigree of an autosomal recessive disorder
3. List 2 examples of autosomal recessive disorders
1. Define autosomal recessive
2. Describe the characteristics of a pedigree of an autosomal recessive disorder
3. List 2 examples of autosomal recessive disorders
Chromosomal Disorders POSNA Study Guide
Objectives
1. Define: diploid (euploid), aneuploid, polyploid, monosomy, trisomy, translocation, duplication, deletion
2. Describe mitosis
3. Discuss the processes responsible for common chromosomal disorders
4. Describe the chromosomal status of children with Down's syndrome
5. Discuss the relationship between translocation and malignancy
1. Define: diploid (euploid), aneuploid, polyploid, monosomy, trisomy, translocation, duplication, deletion
2. Describe mitosis
3. Discuss the processes responsible for common chromosomal disorders
4. Describe the chromosomal status of children with Down's syndrome
5. Discuss the relationship between translocation and malignancy
Disease Information from NORD
National Organization of Rare Disorders (NORD) maintains a database on rare disorders, many of them inherited.
Downs Syndrome The Bone School
Trisomy 21
Epidemiology
- 1 in 800
Aetiology
Advanced maternal age
- Mums <30 still most common
Genetics
- 95% non disjunction during meiosis
- 4% are result of translocation
(Chr 21 joins to Chr 14)
- 1% are Mosaics
Epidemiology
- 1 in 800
Aetiology
Advanced maternal age
- Mums <30 still most common
Genetics
- 95% non disjunction during meiosis
- 4% are result of translocation
(Chr 21 joins to Chr 14)
- 1% are Mosaics
Gaucher Disease POSNA Study Guide
Gaucher Disease MeSH Classification [C16.320.565.595.554.825.400]
Objectives 1. Describe the pathophysiology of Gaucher's disease 2. Describe the most frequent orthopaedic problems associated with Gaucher's disease 3. Describe radiographic features of Gaucher's disease 4. Discuss the prognosis for Gaucher's disease
Objectives 1. Describe the pathophysiology of Gaucher's disease 2. Describe the most frequent orthopaedic problems associated with Gaucher's disease 3. Describe radiographic features of Gaucher's disease 4. Discuss the prognosis for Gaucher's disease
Genetics POSNA Study Guide
Genetics
Objectives
1. Define: genome, chromosome, gene, allele, intron, exon, codon, haploid, diploid, mutation, homeobox gene, transcription, translation, receptor, recombinant protein, karyotype, genotype, phenotype, penetrance, variable expressivity, anticipation, pleitropy
2. Define the process by which genetic material is transferred from the nucleus to the synthesized protein
1. Define: genome, chromosome, gene, allele, intron, exon, codon, haploid, diploid, mutation, homeobox gene, transcription, translation, receptor, recombinant protein, karyotype, genotype, phenotype, penetrance, variable expressivity, anticipation, pleitropy
2. Define the process by which genetic material is transferred from the nucleus to the synthesized protein
Glossary of Genetic Terms
The National Human Genome Research Institute (NHGRI) created the Talking Glossary of Genetic Terms to help everyone understand the terms and concepts used in genetic research. In addition to definitions, specialists in the field of genetics share their descriptions of terms, and many terms include images, animation and links to related terms.
homocystinuria CHORUS
inborn error of metabolism
* autosomal recessive
* resembles Marfan syndrome but...
o medium-sized arteries involved
o osteoporosis present
o arachnodactyly uncommon
* autosomal recessive
* resembles Marfan syndrome but...
o medium-sized arteries involved
o osteoporosis present
o arachnodactyly uncommon
Menkes kinky-hair syndrome CHORUS
defective intestinal copper absorption
* X-linked recessive
* males only
* presents in early infancy
* Wormian bones
* X-linked recessive
* males only
* presents in early infancy
* Wormian bones
Multifactorial Disorders POSNA Study Guide
Objectives
1. Define multifactorial inheritance
2. List 3 conditions of orthopaedic interest that are presently regarded as being multifactorial in their inheritance pattern
Discussion point
1. What method( s) can be used to achieve greater precision in investigating multifactorial inheritance?
1. Define multifactorial inheritance
2. List 3 conditions of orthopaedic interest that are presently regarded as being multifactorial in their inheritance pattern
Discussion point
1. What method( s) can be used to achieve greater precision in investigating multifactorial inheritance?
ochronosis CHORUS
aka: alkaptonuria
* autosomal recessive
* excessive homogentisic acid
o no homogentisic acid oxidase
o part of phenylalanine / tyrosine pathway
* alkaptonuria: brown/black urine
* ochronosis: brown/black pigmentation of skin, mucous membranes
* pigment deposition in articular cartilage of joints
o ==> chronic arthritis (usually evident in 4th decade)
* narrowed, calcified intervertebral disks
* renal calculi
* nephrocalcinosis
* autosomal recessive
* excessive homogentisic acid
o no homogentisic acid oxidase
o part of phenylalanine / tyrosine pathway
* alkaptonuria: brown/black urine
* ochronosis: brown/black pigmentation of skin, mucous membranes
* pigment deposition in articular cartilage of joints
o ==> chronic arthritis (usually evident in 4th decade)
* narrowed, calcified intervertebral disks
* renal calculi
* nephrocalcinosis
Online Mendelian Inheritence in Man
Database of Inherited Diseases. Part of the NLM site and works like PubMed
This database is a catalog of human genes and genetic disorders authored and edited by Dr. Victor A. McKusick and his colleagues at Johns Hopkins and elsewhere, and developed for the World Wide Web by NCBI, the National Center for Biotechnology Information. The database contains textual information and references. It also contains copious links to MEDLINE and sequence records in the Entrez system, and links to additional related resources at NCBI and elsewhere.
This database is a catalog of human genes and genetic disorders authored and edited by Dr. Victor A. McKusick and his colleagues at Johns Hopkins and elsewhere, and developed for the World Wide Web by NCBI, the National Center for Biotechnology Information. The database contains textual information and references. It also contains copious links to MEDLINE and sequence records in the Entrez system, and links to additional related resources at NCBI and elsewhere.
Sex Linked Dominant Disorders POSNA Study Guide
Objectives
1. Describe the features of sex-linked inheritance
2. Describe the method of inheritance of sex-linked dominant disorders, and the characteristics of a pedigree of a sex-linked dominant disorder
3. List 2 sex-linked dominant disorders with orthopaedic importance
There are only 2 conditions with this type of inheritance seen by the orthopaedic surgeon, hypophosphatemic (or Vitamin D resistant) rickets and Rett's syndrome. l. Rett syndrome is lethal in males at birth.
1. Describe the features of sex-linked inheritance
2. Describe the method of inheritance of sex-linked dominant disorders, and the characteristics of a pedigree of a sex-linked dominant disorder
3. List 2 sex-linked dominant disorders with orthopaedic importance
There are only 2 conditions with this type of inheritance seen by the orthopaedic surgeon, hypophosphatemic (or Vitamin D resistant) rickets and Rett's syndrome. l. Rett syndrome is lethal in males at birth.
Sex Linked Recessive Disorders POSNA Study Guide
Objectives
1. Define sex-linked recessive
2. Describe the features of the pedigree of a sex-linked recessive disorder
3. List 2 sex-linked recessive disorders commonly accompanied by orthopaedic problems
Duchenne and Becker muscular dystrophy are now recognized as sex-linked recessive disorders originating from different mutations of the same gene. Carrier females may be identified by having elevated creatine phosphokinase levels. Another disorder with orthopaedic implications is classic hemophilia.
1. Define sex-linked recessive
2. Describe the features of the pedigree of a sex-linked recessive disorder
3. List 2 sex-linked recessive disorders commonly accompanied by orthopaedic problems
Duchenne and Becker muscular dystrophy are now recognized as sex-linked recessive disorders originating from different mutations of the same gene. Carrier females may be identified by having elevated creatine phosphokinase levels. Another disorder with orthopaedic implications is classic hemophilia.
