Genetics
Genomic Imprinting
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Get accessThe difference in phenotypic expressions depending on the origin (paternal or maternal) of the disease chromosome
- Deletion of paternally derived 15q12 results in Prader-Willi syndrome
- Feeding problems
- Small hands and feet
- Hypogonadotrophic hypogonadism
- Cryptorchidism
- Obesity
- Deletion of maternally derived 15q12 results in Angelman syndrome
- Microcephaly
- Mental retardation
- Hyperactivity and hypertonia
- Sleep disturbance
- Beckwith-Wiedemann syndrome: maternal allele loss
- Russell-Silver syndrome: imprinting defect of chromosome 7