Chromosomal location | Features |
1q21.1 deletion | Moderate/mild learning difficulties, heart defects, cataract (1q21.1 duplications associated with macrocephaly) |
1q44 subtelomeric deletion | Callosal agenesis, severe microcephaly, epilepsy |
2q31.1 deletion | Neurologic and behavioral characteristics of MBD5 haploinsufficiency plus craniofacial dysmorphism, microcephaly, small hands and feet, hyperphagia |
5q35 microduplication (reciprocal to the Sotos syndrome/NSD1 common deletion) | Short stature, delayed bone age, speech delay, and mild or no dysmorphism |
6q25 deletion | Callosal agenesis, facial dysmorphisms, hearing loss |
9q34 deletion | Intellectual disability, minor facial dysmorphisms, epilepsy; EHMT1 haploinsufficiency implicated |
16p11.2 deletion and duplication | Autism and macrocephaly with deletion 16p11.2, attention deficit hyperactivity and microcephaly with duplication 16p11.2, epilepsy |
17q23.1q23.2 microdeletion | Speech delay, microcephaly, growth retardation, dysmorphisms (heart, hands, limbs), abnormalities |
22q13.3 deletion | Severe intellectual disability and speech deficits, minimal dysmorphism (SHANK3 and other genes implicated) |
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