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Wessex Reg. Genetics CentreReset filters
88 results
  • DiGeorge syndrome - 22q11deletion - FISH
  • Fragile X metaphase spread
  • Acute promyelocytic leukaemia karyotype
  • Metaphase, deletion on chromosome 15
  • Familial aniridia deletion shown by cosmid
  • Paracentric chromosome inversion
  • Myotonic dystrophy pedigree + rflp autoradio
  • Duchenne muscular dystrophy deletion, FISH
  • Abnormal foetal cells in amniotic fluid
  • Prader Willi & Angelman syndromes - FISH
  • Translocation, shown by cosmid probes
  • Turner's syndrome karyotype 45,XO. This female lacks the second X chromosome present in the normal karyotype. Symptoms include short stature, neck wbbing, elbow deformity, widely spaced nipples with shield chest, primary amenorrhea, sexual infantilism and sterility. The ovaries are reduced to fibrous streaks. Also known as XO syndrome or ovarian short-stature syndrome.
  • Down syndrome human karyotype 47,XY,+21
  • Myelodysplasia (leukaemia) karyotype
  • Follicular non-Hodgkinson's lymphoma
  • Acute myelomonocytic leukaemia +eosinophilia
  • Down syndrome human karyotype 47,XY,+21
  • Translocation shown up by cosmid probe
  • Triple-X chromosome aberration karyotype
  • Aniridia, Wilm's tumour, deletion - FISH
  • Balanced reciprocal translocation 46,XY,t(2;5). This male has a chromosomal disorder. A chromosome 2 and a chromosome 5 have exchanged segments. The cell still contains a complete complement of
  • Foetal cells from amniotic fluid, colchicine
  • Human metaphase, normal male + nucleus
  • Duchenne muscular dystrophy - normal female, chromosomes have been highlighted by a fluorescent probe for exon 45/47 (note the double yellow band). This disorder is caused by a recessive gene on the X chromosome, so is normally shown only by males, who lack a second X chromosome. The condition starts with difficulty in walking and climbing stairs in early childhood, usually resulting in confinement to a wheelchair by the age of 10, with death from respiratory infection or cardiac failure by about the age of 20.
  • Normal female 46,XX human karyotype
  • Acute myeloblastic leukaemia karyotype
  • Human karyotype showing translocation between chromosomes 14 and 21, t(14;21). This is a balanced translocation - the cell retains a normal complement of genetic information.
  • Edward's syndrome karyotype, 47,XY,+18
  • Normal human male metaphase, Y banding
  • Leukaemia karyotype t(4;11) etc