Medical Genetics - V. M. Zaporozhan 2005

Etiology of Hereditary Diseases
Non-Mendelian Inheritance in Humans
Trinucleotide Repeat Expansion

Trinucleotide repeat expansions are a unique type of Gene mutation characterized by an inheritance pattern that deviates from classic Mendelian rules. They are notable for phenotypic variations depending on the parental Water/144.html">Origin of the mutation (maternal or paternal) and The phenomenon of anticipation, whereby the severity of disease manifestations increases in successive generations.

Table 2.8. Genomic Imprinting Disorders caused by uniparental disomies and isodisomies

Chromosome

Origin

Disease or syndrome

6

Paternal

Transient neonatal Diabetes Mellitus

7

Maternal

Russell — Silver syndrome

Maternal

Intrauterine growth restriction

11

Paternal

Beckwith — Wiedemann syndrome

14

Maternal

Intrauterine growth restriction, delayed physical and motor development, hypotonia, precocious Puberty

15

Maternal

Prader — Willi syndrome

Paternal

Angelman syndrome

16

Maternal

Intrauterine growth restriction associated with confined placental mosaicism


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