-1.4 BMI c/SDS Therapy i nitiation 17.2; 83 /0.96 17.8; 94/1.56 12 months 15.8; 52.5/0.0 15.5; 51.0/0.0 Currently 18.9; 85/1.06 18.0; 87.5/1.15 Therapy duration 6.5 3 (yrs) M = male; F = female; UPD = uniparental disomy
; Del = deletion; MT = methylation test; MPH = midparental height; IQ= intelligence quotient; c/SDS) = percentile/standard deviation score Table 2.
Fryns, "Chromosome 15 maternal uniparental disomy
and psychosis in Prader-Willi syndrome," Journal of Medical Genetics, vol.
RSS fits in the TDS model because of genetic aberration (hypomethylation of chromosome 11p15.5 and maternal uniparental disomy
for chromosome 7) and genitourinary anomalies (e.g., cryptorchidism, hypospadias, small testes, and penis), which implies that men with RSS are likely to develop testicular cancer.
(2000) Parental origin-specific developmental defects in mice with uniparental disomy
for chromosome 12.
Psychotic illness in people with Prader-Willi syndrome due to chromosome 15 maternal uniparental disomy
. Lancet, 359(9301), 135-136.
Partial paternal uniparental disomy
of chromosome 6 in an infant with neonatal diabetes, macroglossia and craniofacial abnormalities.
In a smaller number of cases, the syndrome is the result of uniparental disomy
in which the maternal contribution to chromosome 15q is replicated, replacing the paternal contribution (Knoll, Nicholls, Magenis, & Graham, 1989).
Some 30 percent of cases occur when both chromosome 15s are inherited from the individual's mother, a condition called uniparental disomy
In the rest of the individuals with these syndromes, however, researchers couldn't find chromosomal deletions; this led them to suspect uniparental disomy
. The 1989 discovery of a double dose of maternal chromosome 15 in six cases of Prader-Willi syndrome stimulated researchers to search for double paternal chromosomes in Angelman's patients, says Judith G.
Complete androgen insensitivity in a 47,XXY patient with uniparental disomy
for the X chromosome.
Fetal aneuploidies are a major cause of pregnancy loss (27), hence, achieving full term pregnancy is only possible if the gemmates were fertilized with suitable aneuploid gemmates which will result in Uniparental Disomy
However, use of genome-wide DNA single-nucleotide polymorphism microarrays has been critical in identifying abnormalities that are not detectable by conventional G-banding and FISH, such as copy number aberrations and copy-neutral loss of heterozygosity or uniparental disomy
. (55-58) In contrast to conventional cytogenetics, the microarray affords examination of the entire genome at the kilobase or gene level.