Chromosome 7

Genes

Number of genes

Gene list

Diseases and disorders

• 7p22.1 microduplication syndrome
• argininosuccinic aciduria
• cerebral cavernous malformation
• Charcot–Marie–Tooth disease
• Cholestasis, progressive familial intrahepatic 3
• Citrullinemia, type II, adult-onset,
• congenital bilateral absence of vas deferens
• cystic fibrosis
• Developmental verbal dyspraxia
• distal [spinal muscular atrophy, type V]
• Ehlers–Danlos syndrome
• hemochromatosis, type 3
• Hereditary nonpolyposis colorectal cancer HNPCC4
• Lissencephaly syndrome, norman-roberts type
• Marfan syndrome
• maple syrup urine disease
• maturity onset diabetes of the young type 3
• mucopolysaccharidosis type VII or Sly syndrome
• Muscular dystrophy, limb-girdle, type 1D
• myelodysplastic syndrome
• Myotonia congenita
• nonsyndromic deafness
• O'Donnell-Luria–Rodan syndrome
• osteogenesis imperfecta
• p47-phox-deficient chronic granulomatous disease
• Pectus excavatum
• Pendred syndrome
• Romano–Ward syndrome
• Shwachman–Diamond syndrome
• Schizophrenia
• Silver-Russell syndrome
• Specific language impairment
• Tritanopia or tritanomaly color blindness
• Williams syndrome
• Zellweger syndrome

Chromosomal disorders

• Williams syndrome is caused by the deletion of genetic material from a portion of the long arm of chromosome 7. The deleted region, which is located at position 11.23, is designated as the Williams syndrome critical region. This region includes more than 20 genes, and researchers believe that the characteristic features of Williams syndrome are probably related to the loss of multiple genes in this region.

• Other changes in the number or structure of chromosome 7 can cause delayed growth and development, mental disorder, characteristic facial features, skeletal abnormalities, delayed speech, and other medical problems. These changes include an extra copy of part of chromosome 7 in each cell or a missing segment of the chromosome in each cell. In some cases, several DNA building blocks are deleted or duplicated in part of chromosome 7. A circular structure called ring chromosome 7 is also possible. A ring chromosome occurs when both ends of a broken chromosome are reunited.

Cytogenetic band

In popular culture

Novels