Table 4.
Deleted Region | Typical Clinical Features (Apart from Mental Retardation) | References |
---|---|---|
1q41q42 | Seizures, dysmorphic features, midline defects (Fryns syndrome?) | [73] |
2p15p16.1 | Developmental delay, short stature, microcephaly | [74] |
3q29 | Speech delay, autistic traits, dysmorphic features | [75] |
12q14 | Osteopoikilosis, short stature | [76] |
15q13.3 | Epilepsy, facial and digital dysmorphisms | [77] |
15q24 | Growth retardation, microcephaly, digital abnormalities, hypospadia, loose connective tissue | [78] |
16p11.2p12.2 | Distinct facial features, heart defects, short stature | [79] |
17q21.31 | Characteristic facial dismorphisms, hypotonia | [80] |
22q11.2 | Learning and behavioral problems | [81] |
all these syndromes were discovered by array-CGH-based approaches.