Temple syndrome (TS) and Kagami-Ogata syndrome (KOS) are imprinting disorders caused
by absence or overexpression of genes within a single imprinted cluster on human …

Clinicians are encouraged to document the reasons for the use of a particular procedure or
test, whether or not it is in conformance with this statement. Clinicians also are advised to …

Syndromic obesity refers to obesity occurring with additional clinical findings, such as
intellectual disability/developmental delay, dysmorphic features, and congenital …

Imprinting disorders (ImpDis) represent a small group of rare congenital diseases primarily
affecting growth, development, and the hormonal and metabolic systems. The aim of present …

DNA methylation (mDNA) plays an important role in the pathogenesis of
neurodevelopmental disorders (NDDs), however its use in diagnostic testing has been …

We describe a patient with Temple syndrome resulting from maternal uniparental disomy of
chromosome 14 who also has low‐level mosaicism for trisomy 14. UPD was initially …

Temple syndrome (TS14) can be originated by maternal uniparental disomy (UPD (14) mat),
paternal deletion, or epimutation, leading to disturbances in 14q32. 2 imprinted region. The …

Mosaicism for trisomy of chromosome 14 (T14) is a very rare chromosomal disease in
liveborn patients. Since the 1970s, when the first patients with mosaicism for T14 were …

Objective We present high-level mosaic trisomy 14 at amniocentesis in a pregnancy
associated with congenital heart defects (CHD) and intrauterine growth restriction (IUGR) …

We present a case of a fetus acquiring two different balanced translocations from each
parent and subsequent uniparental isodisomy from postzygotic loss of a paternal …