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.
Nagai, "Autism spectrum disorders and hyperactive/ impulsive behaviors in Japanese patients with Prader-Willi syndrome: a comparison between maternal uniparental disomy
and deletion cases," American Journal of Medical Genetics, vol.
The two reported causes of RSS are hypomethylation of chromosome 11p15.5 and maternal uniparental disomy
for chromosome 7.
 Nonstandard abbreviations: aCGH, array comparative genomic hybridization; CN, copy number; FISH, fluorescence in situ hybridization; PCN, plasma cell neoplasm; CLL chronic lymphocytic leukemia; SNP, single nucleotide polymor phism; UPD, uniparental disomy
; MDS, myelodysplastic syndrome; AML acute myeloid leukemia; DLRS, derivative log ratio spread; ASCN, allele-specific copy number; IL, interleukin; MLL mixed-lineage leukemia; CBFB, core-binding factor, [beta] subunit; LOH, loss of heterozygosity.
Abbreviations: LTR: long terminal repeat; Peg: paternally expressed gene; Meg: maternally expressed gene; ICR: imprinting control center; DMR: differentially methylated region; upd14pat: uniparental disomy
of paternal chromosome 14; XCI: X chromosome inactivation; CTCF: CCCTC-binding factor; PGC: primordial germ cell; miRNA: micro RNA; SINE: short interspersed nuclear element; LINE: long interspersed nuclear element; Ma: million years ago; SIRH: sushi-ichi related retrotransposon homologue; PNMA: paraneoplastic Ma antigen; XLID: X-linked intellectual disability; mC: methyl cytosine; hmC: hydroxylmethyl cytosine; HERV: human endogenous retrovirus; P-Tr: Permian-Triassic; Tr-J: Triassic-Jurassic; K-Pg: Kreide-Paleogene.
Cesbron et al., "Pretransplant HLA mistyping in diagnostic samples of acute myeloid leukemia patients due to acquired uniparental disomy
," Leukemia, vol.
Maladaptive behavior differences in Prader-Willi syndrome due to paternal deletion versus maternal uniparental disomy
. American Journal of Mental Retardation, 104, 67-77.
of the entire X - chromosome in a female with Duchenne muscular dystrophy.
In the population of persons with PWS resulting from maternal uniparental disomy
, reduced skin picking was seen but there was an increase in affective, psychotic, and autistic symptoms (Boer et al., 2002; Soni et al., 2007).
of the entire X chromosome in a female with Duchenne muscular dystrophy.
About 70% of cases are caused by a paternal genetic deletion on chromosome 15 (15q11-13), while 25% are from a maternal uniparental disomy
of chromosome 15.
As expected, the IQs of normal siblings correlated 0.5, and this was also the case with one genetic subtype of PWS (uniparental disomy
) and their siblings, while the other subtype IQ correlated -0.07 with sibling IQ.