uniparental disomy (UPD) both chromosomes in one of the 23 pairs have come from the same parent. The result of UPD is a duplicate presence of genes from one parent and no input from …

Although recent studies in patients with paternal uniparental disomy 14 [upd(14)pat] and other conditions affecting the chromosome 14q32.2 imprinted region have successfully identified …

Uniparental disomy of chromosome 14 (UPD14) is the most common cause of KOS and TS, with TS more often associated with maternal UPD (14) (UPD (14)mat) and KOS frequently arising …

2015年9月17日 · Consistent with this, paternal uniparental disomy 14 (upd (14)pat), and epimutations (hypermethylations) and microdeletions affecting the IG-DMR and/or the MEG3 …

Maternal uniparental disomy of chromosome 14 (upd(14)mat) or Temple syndrome is an imprinting disorder associated with a relatively mild phenotype. The absence of specific …

Maternal UPD14 or Temple Syndrome, is characterised by pre and postnatal growth retardation, hypotonia, joint laxity, motor delay, early onset of puberty, and minor dysmorphic features of …

Maternal uniparental disomy of chromosome 14 is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, hypotonia, motor delay, early puberty, obesity, short …

2020年8月17日 · 单亲二体（Uniparental Disomy ,UPD）：指两条同源染色体均遗传自一个亲代。 UPD可以是染色体上的某一片段，也可以是一整条染色体。 UPD是否导致临床表型发生取决 …

Findings in maternal UPD (14) ("Temple") syndrome show an age-dependent overlap with the well-known maternal UPD (15) (Prader-Willi) syndrome and are dominated by initial failure to …

Since the first reports of and Wang et al and Temple et al in 1991, a well characterised clinical phenotype has emerged for both paternal and maternal uniparental disomy of chromosome 14 …