Similar to 染色体異常

Heterochromatin

Theodor Boveri

Euchromatin

Y-chromosomal Adam

Human Y-chromosome DNA haplogroup

DiGeorge syndrome

Chromosome 5q deletion syndrome

CHARGE syndrome

MELAS syndrome

Usher syndrome

Alport syndrome

Isovaleric acidemia

Hereditary sensory and autonomic neuropathy

Williams syndrome

Werner syndrome

H syndrome

Ehlers–Danlos syndrome

Trisomy 18

Ohtahara syndrome

Orotic aciduria

Cowden syndrome

Familial Mediterranean fever

Kallmann syndrome

Gangliosidosis

Rare disease

Gitelman syndrome