Abstract Analysis of confined placental mosaicism (CPM) for trisomies 2, 3, 7, 8, 9, 16, and
22, in diagnostic chorionic villus sampling procedures, demonstrates apparent incidences of …

Uniparental disomy (UPD) describes the inheritance of a pair of chromosomes from only one
parent. The concept was introduced in Medical Genetics by Engel (1980); Am J Med Genet …

Chromosomal mosaicism is the presence of 2 or more cell lines with different karyotypes in
the same individual. Mosaic karyotypes are a remarkable feature of early stages of human …

While numerous theories have been proposed for the evolution of genomic imprinting, few
have been tested. The conflict theory proposes that imprinting is an intra-individual …

Basal cell nevus syndrome (BCNS), also known as Gorlin syndrome (OMIM# 109400) is a
well‐described rare autosomal dominant condition due to haploinsufficiency of PTCH1. With …

Abstract Approximately 15–20% of all clinically recognised pregnancies abort, most
commonly between 8–12 gestational weeks. While the majority of early pregnancy losses is …

Twelve patients with varying degrees of mosaicism for a supernumerary ring chromosome
were studied. The ring chromosomes were characterized using microdissection in …

Objective: Our purpose was to determine if the frequency of confined placental mosaicism in
newborns with unexplained intrauterine growth retardation (IUGR) was higher compared …

In the population of children born after prenatal cytogenetic investigation in chorionic villi at
our department from 1992 to 1995 (N= 3940), three are known to us with uniparental …

Background Non-invasive prenatal testing (NIPT) is currently used as a frontline screening
test to identify fetuses with common aneuploidies. Occasionally, incidental NIPT results are …