In two patients, PWS was caused by deletion of the 15q11-q13 region, and in one patient by maternal uniparental disomy
of the same region.
The proportion of uniparental disomy
is increased in Prader-Willi syndrome due to an advanced maternal childbearing age in Korea.
Fryns, "Chromosome 15 maternal uniparental disomy
and psychosis in Prader-Willi syndrome," Journal of Medical Genetics, vol.
All other samples were negative, with majority showing low polysomy and a small proportion with disomy
Descriptive statistics for exposures and disomy
data were summarized as means and standard deviations, geometric means, medians, and relevant percentiles.
However, it was shown that patients with disomy
3 tumors and SF3B1 mutations have increased risk of metastatic disease at a longer follow-up time (Koopmans AE, Prognostic implications of acquired genetic changes in uveal melanoma.
The two reported causes of RSS are hypomethylation of chromosome 11p15.5 and maternal uniparental disomy
for chromosome 7.
In contrast to aCGH, FISH, and conventional cytogenetic studies, single nucleotide polymorphism (SNP) arrays can identify uniparental disomy
(UPD) (1, 9).
(8,50) Another reason to choose the latter was its medical importance, because paternal disomy
of human orthologous chromosome 14 (upd (14) pat) causes a severe genomic imprinting disease associated with neonatal lethality by a respiratory problem, presumably related to a bell-shaped thorax and abdominal defects, placental overgrowth and polyhydramnios during gestation, with severe mental and postnatal growth retardation when the patients survived.
Those include cases of mosaicism (in the parents or proband), uniparental disomy
, consanguinity, clinically reportable structural variants and cases with dual diagnoses, he added.
The disease is most probably inherited with autosomal dominant inheritance, but it has also been shown to be inherited by "unipaternal" disomy