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 |