Table 2.

Selected disorders of genome architecture

Disorder	Inheritance	Locus	Gene	Rearrangement		Repeat size (kb)	Reference
				Type	Size (kb)
Williams-Beuren syndrome	AD	7q11.23	ELN	del/inv	1600	>320    }	Somerville et al. (2005)
Dup7(q11.23) syndrome	?	7q11.23	?	dup		}
Prader-Willi syndrome	AD	5q11.2q13	?	del	3500	>500    }
Angelman syndrome	AD	15q11.2q13	UBE3A	del	3500	>500    }	Long et al. (1998)
Dup(15)(q11.2q13)	AD?	15q11.2q13	?	dup	3500	>500    }
Triplication 15q11.2q13	AD?	15q11.2q13	?	trip		>500    }
Smith-Magenis syndrome	AD?	17p11.2	RA13	del	4000	~250    }	Potocki et al. (2000)
Potocki-Luspki syndrome	AD	17p11.2	?	dup		}
CMT1A	AD	17p11.2	PMP22	dup	4000	~250    }	Chance et al. (1994)
HNPP	AD	17p11.2	PMP22	del		}
Neurofibromatosis type 1	AD	17q	NF1	del			De Luca et al. (2007)
DiGoerge/VCFS	AD	22q11.2	TBX1	del	3000	~400    }	Edelman et al. (1999)
Dup 22(q11.2q11.2) syndrome	?AD	22q11.2	?	dup		}
Sotos syndrome	AD		NSD1	del			Rauch and Dörr (2007)
Male infertility	YL	Yq11.2	DBY	del	800	~10     }	Blanco et al. (2000)
AZFa-HERV microdeletion			USP9Y	del
AZFc microdeletion	YL	Yq11.2	RBMY DAZ?	del	3500	~220    }	Boch and Jobling (2003)

del, deletion; dup, duplication; inv, inversion