Abstract Autosomal recessive pontocerebellar hypoplasia comprises a group of devastating neurodegenerative disorders that lead to severe motor and cognitive impairment. Life expectancy varies based on subtype and is unpredictable; few…

Abstract Monosomy for the distal portion of the short arm of chromosome 5 causes 5p deletion syndrome, which is also known by the currently less favored term “cri du chat”…

Abstract First clinically described in 1961 by Hirschhorn and subsequently in 1965 by Wolf, the 4p deletion syndrome, or Wolf-Hirschhorn Syndrome (WHS), is the first example of a classic human…

Abstract The term monochorionic refers to a multiple gestation with one placental disk (or chorion), and the term diamniotic describes the presence of two distinct amniotic cavities. By definition, monochorionic…

Abstract The term monochorionic refers to a multiple gestation with one placental disk (or chorion), whereas monoamniotic describes the presence of only one amniotic cavity. By definition, monoamniotic twin pregnancies…

Abstract Chorionicity refers to the number of placentas in a multiple gestation; amnionicity refers to the number of amniotic cavities. Prenatal determination of chorionicity and amnionicity is essential in the…

Abstract Miller-Dieker syndrome, or 17p13.3 deletion syndrome, is a rare, contiguous gene deletion syndrome characterized by type 1 lissencephaly, facial dysmorphism, seizures, and severe mental retardation. Impaired neuronal migration between…

Abstract The 22q11.2 deletion syndrome is the most common human chromosomal microdeletion syndrome and one of the most common genetic syndromes associated with prenatally detected congenital heart defects (CHDs). It…

Abstract Turner syndrome (monosomy X) is characterized by the complete or partial loss of the second X chromosome in the female, with or without cell line mosaicism. There are three…