Table 2.

Aneuploidy Syndromes (Common) and Brain Malfunction

Disease	Chromosome Imbalance	Brain Dysfunction	Incidence	Key Ref.
Autosomal aneuploidy
Down syndrome	Trisomy of chromosome 21	Mental retardation/ neuropathological changes/conspicuous brain malformations	~1:800	[57]
Edwards syndrome	Trisomy of chromosome 18	Severe brain dysfunctions/ malformations hardly compatible with life	~1:7000	[12, 60]
Patau syndrome	Trisomy of chromosome 13	Severe brain dysfunctions/ malformations hardly compatible with life	1:6000-1:29000	[12, 60]
Trisomy 8	Trisomy of chromosome 8	Mental retardation/different morphological brain abnormalities	>100 cases reported	[12, 60]
Trisomy 9	Trisomy of chromosome 9	Mental retardation/different morphological brain abnormalities	>40 cases reported	[12, 60]
Sex chromosome aneuploidy
Turner syndrome	Monosomy of chromosome X	Behavioral and cognitive disabilities/psychiatric disorders	>1:2000 (females)	[58]
Trisomy X syndrome	Trisomy of chromosome X	Severe behavioral and cognitive disabilities/psychiatric disorders	~1:1000	[12, 61]
Klinefelter syndrome	Additional chromosome X in a male karyotype	Behavioral and cognitive disabilities/psychiatric disorders	~1:500	[59]
47,XYY	Additional chromosome Y in a male karyotype	Behavioral disability (aggressive behavior)/psychiatric disorders	~1:800	[12, 61]