disomic

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Related to Disomy: trisomy, Prader Willi syndrome

disomic

(daɪˈsəʊmɪk)
adj
(Genetics) genetics having an extra chromosome in the haploid state that is homologous to an existing chromosome in this set
diˈsomy n
References in periodicals archive ?
These are helpful in detecting issues such as loss of heterozygosity (LOH; for example uniparental disomy of a chromosome).
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.
Laboratory diagnosis is established in 95% of cases, with a predominance of a paternal deletion subtype in 70% of affected individuals, with uniparental disomy in 25% of cases (both chromosomes 15 are of maternal origin and neither of paternal origin).
To our knowledge, only one previously published study has investigated the relationship between organochlorine compounds and human sperm sexchromosome disomy (McAuliffe et al.
However, according to the presence of imprinted genes on chromosomes 14 and 15, Robertsonian translocations involving these chromosomes are expected to have a relatively higher likelihood of resulting in uniparental disomy (UPD).
11 The partial deletion of the long arm of the paternal chromosome 15 is a common marker of this disease, (12) though it can also present as a maternal uniparental disomy.
68) used multiplex ligation-dependent probe amplification to compare patients with disomy 3, monosomy 3 and both monosomy 3 and 8q gain, and reported 10-year melanoma-related mortality rates of 0%, 55% and 71% in the three groups, respectively.
5 [3], and 10% have maternal uniparental disomy for chromosome 7 [4].
Uniparental disomy in humans, development of imprinting map and its implication for prenatal diagnosis, oxford journals, vol 4 p-1757-1764.
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.
These mechanisms include a paternally derived de novo deletion of this region (approximately 75%-80%), maternal uniparental disomy (UPD) of chromosome 15 (approximately 20%-25%), or paternal imprinting defects that silence paternal alleles (approximately 1%).