Chromosome 5p Deletion Syndrome (Cri du Chat Syndrome)
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”…
Chromosome 4p Deletion Syndrome (Wolf-Hirschhorn Syndrome)
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…
Monochorionic Diamniotic Twin Gestations
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…
Monochorionic Monoamniotic Twin Gestations
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…
Chorionicity of Multiple Gestations
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…
Miller-Dieker Syndrome (17p13.3 Deletion Syndrome)
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…
22q11.2 Deletion Syndrome
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…
Turner Syndrome (Monosomy X)
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…
Mosaic Trisomies 8, 9, and 16
Abstract The most severe trisomies usually result in early pregnancy loss. However, some of these severe trisomies may survive to birth if they are mosaics, in which the condition only…
Sirenomelia
Abstract Sirenomelia is characterized by a single lower limb, bilateral renal agenesis, and single umbilical artery contiguous with the aorta. Internal and/or external genitalia anomalies as well as oligo/anhydramnios may…
