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 the other parent. When all the genes come from the mother, this is termed maternal UPD, sometimes shortened to mUPD or UPDmat. When all

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 underlying epigenetic factors involved in the development of upd(14)pat phenotype, several matters, including regulatory mechanism(s) for RTL1 expression ...

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 from paternal UPD (14) (UPD (14)pat). Less commonly, epimutations or partial deletions of the maternal or paternal chromosome may also cause TS and KOS, respectively.

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 -DMR of maternal origin, result...

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 congenital malformations makes this condition underdiagnosed in clinical ...

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 the face, hands, and feet.

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 adult stature, small hands and feet, mild intellectual disability, and mild dysmorphic facial features (frontal bossing, short nose with wide nasal tip ...

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于其是否存在于受遗传印记影响的染色体上，或是否导致相关隐性疾病的发生。 02. 发生机制. 1. 三体自救： 图A示意的是三体自救过程，减数分裂过程中同源染色体或姐妹染色单体不分离导致的二体型配子与正常单体型配子受精结合形成三体合子。 由于自救，卵裂过程中随机丢掉其中一条 …

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 thrive followed by obesity, learning difficulties and precocious puberty.

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 (UPD14). Paternal UPD14 or Wang syndrome is characterised by polyhydramnios, thoracic and abdominal wall defects, growth retardation, severe developmental ...