Genetics Inheritance Patterns Flashcards
1
Q
autosomal recessive disorders
A
CF sickle cell anemia thalassemia PKU biotinadase deficiency - cannot process biotin Tay Sachs galactosemia Gauchers (++ glucocerebroside) Alpers syndrome (mitochondria - but defect in nuclear DNA) most metabolic disorders
2
Q
autosomal dominant
can often be new mutation
A
tuberous sclerosis marfan neurofibromatosis type I and II achondroplasia osteogenesis imperfecta (most forms, not all, some are AR)
3
Q
X-linked recessive
A
duchenne muscular dystrophy fragile X syndorme G-6-P dehydrogenase deficiency hemophilia A and B hunters
4
Q
X-linked dominant
A
Rhett syndrome (99% sporadic) - lethal in males
5
Q
mitochondrial
A
Kearns-Sayne
MERRE
MELAS
NOTE: some mitochondira disorderes are due to mutation in nuclear DNA…like Alpers syndrome (AR)
6
Q
trinucleotide repeat disorders
A
huntingtons disease fragile X kennedy disease myotonic dystrophy fredreich's ataxia spinocerebellar ataxias (several types)
7
Q
chromosomal abnormalities
A
trisomy 21, 18, 13 robertsonian translocation turner's klinefelters philadelphia chromosome (9/22 translocation) Cri du Chat Wolf-Hirshon syndrome deletion 22 (DiGeorge or VCFS)
8
Q
Beckwith Widerman
A
Beckwith Widerman
- 50% due to imprinting
- 20% caused by uniparental disomy
- or single gene mutation of CDKN1C gene
- less than 1% due to chromosomal abnormality
9
Q
Angelman and Prader Wili
A
UPD, microdeletion or imprinting errors
