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. 2008 Nov;9(7):452–465. doi: 10.2174/138920208786241216

Table 4.

“New Microdeletion Syndromes” Associated with Mental Retardation1

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]
1

all these syndromes were discovered by array-CGH-based approaches.