18p Deletion Syndrome

Individuals with 18p deletion syndrome (also known as monosomy 18p or 18p- syndrome) have a deletion of part or all of the short arm of chromosome 18. The syndrome was first described by Jean de Grouchy and colleagues in 1963. It is now a well-established syndrome that affects approximately 1 in every 50,000 births. There is great variability in the medical and developmental presentation in 18p deletion syndrome. This variability is due to differences among individuals in the size of the deletion and specific breakpoints. The larger the deletion is and the closer it is to the centromeric region of the chromosome, the more severe the medical and developmental anomalies will be. However, the most common characteristics of 18p deletion syndrome are growth retardation, short ...