More Chromosomal Conditions
Several other chromosomal abnormalities affect different aspects of development and health. Mosaic T16 syndrome involves trisomy of chromosome 16, causing heart defects, delayed growth and speech development, plus reproductive and kidney problems.
Angelman syndrome results from deletion of part of chromosome 15 (specifically the maternal copy). Originally called "Happy Puppet Syndrome," it causes developmental delays, little to no speech, frequent laughing and smiling, and a characteristic happy demeanor. People affected often have small heads, big lower jaws, and widely spaced teeth.
Prader-Willi syndrome also involves chromosome 15, but affects the paternal copy through deletion. It causes weak muscle tone in infancy, feeding difficulties, and later develops into obsessive eating behaviors (hyperphagia), short stature, and behavioral challenges like OCD tendencies.
DiGeorge syndrome involves deletion of part of chromosome 22, affecting multiple body systems. It commonly causes heart problems, frequent infections due to immune deficiencies, cleft palate, hearing and vision issues, and distinctive facial features.
These conditions show how critical proper chromosome function is for normal development. Each chromosome contains hundreds of genes, so even small deletions can have significant effects on multiple body systems.
Study Strategy: Group these syndromes by chromosome number and type of abnormality - it's easier to remember patterns than isolated facts!