Chromosomal lesions and uniparental disomy
detected by SNP arrays in MDS, MDS/MPD, and MDS-derived AML.
Legend: M-male; F-female; IQ-Intelligence Quotient; WISC III--Wechsler Intelligence Scale for Children (WECHSLER, 2002) ; MUD=Maternal Uniparental Disomy
To detect sex-chromosome disomy
(aneuploidy involving an extra X or Y chromosome), a single investigator blinded to exposure status performed FISH analysis.
in Robertsonian translocations: strategies for uniparental disomy
The frequency of uniparental disomy
in Prader-Willi syndrome.
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.
In 2006 and 2008, we finally identified Peg10 and Peg11/Rtl1 as the major imprinted genes responsible for the parthenogenetic death and the uniparental disomy
of mouse Chr12/ human upd (14) pat, and elucidated their essential roles in placenta formation and maintenance, respectively.
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
It gives us the ability to tell if there is identity in the chromosomes," she said, explaining that this may mean identifying uniparental disomy
(and likely Prader-Willi syndrome), consanguinity (and degree of relationship), and other circumstances associated with autosomal recessive disease.
Maladaptive behavior differences in Prader-Willi syndrome due to paternal deletion versus maternal uniparental disomy
They assessed cfDNA from a training set and from a blinded validation set of pregnant women that encompassed 250 disomy
gestations, 72 trisomy 21 gestations, and 16 trisomy 18 gestations.
Abnormal phenotypes in uniparenateral disomy
(UPD): fundamental aspects and critical review with bibliography of UPD other than 15.
They looked for sperm disomy
, which occurs when sperm cells have an abnormal number of chromosomes.
Recently a case report showed unipaternal disomy
of entire X-chromosome to be the pathogenetic mechanism in such females.