Key Points Fetal malformations can be caused by chromosomal defects detectable by fetal karyotype and chromosomal microarray analysis, by sequence variants (mutations) in single genes or can be multifactorial in origin. Single-gene disorders can be inherited from parents (autosomal recessive,…
Introduction 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” syndrome, from the French description of the monotonous high-pitched “cat-like”…
Introduction 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 chromosomal deletion syndrome. This rare condition, characterized by severe prenatal…
Introduction The 22q11.2 deletion syndrome is the most common human chromosomal microdeletion syndrome and one of the most common syndromes associated with prenatally detected congenital heart defects (CHDs). It has a variable phenotype, with a wide range of associated clinical…