Type of Rearrangement Chromosome Disorder Symptoms
Duplication 4, short arm Small head, short neck, low hairline, growth and intellectual disability
Duplication 4, long arm Small head, sloping forehead, hand abnormalities
Duplication 7, long arm Delayed development, asymmetry of the head, fuzzy scalp, small nose, low-set ears
Duplication 9, short arm Characteristic face, variable intellectual disability, high and broad forehead, hand abnormalities
Deletion 5, short arm Cri-du-chat syndrome Small head, distinctive cry, widely spaced eyes, round face, intellectual disability
Deletion 4, short arm Wolf–Hirschhorn syndrome Small head with high forehead, wide nose, cleft lip and palate, severe intellectual disability
Deletion 4, long arm Small head, mild to moderate intellectual disability, cleft lip and palate, hand and foot abnormalities
Deletion 7, long arm Williams–Beuren syndrome Facial features, heart defects, mental impairment
Deletion 15, long arm Prader–Willi syndrome Feeding difficulty at early age but becoming obese after 1 year of age, mild to moderate intellectual disability
Deletion 18, short arm Round face, large low-set ears, mild to moderate intellectual disability
Deletion 18, long arm Distinctive mouth shape, small hands, small head, intellectual disability
Table 8.1: Effects of some human chromosome rearrangements