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Results 1 - 10 of 10 for Short long bone
  1. ... or 20q) or a missing segment of the short or long arm of the chromosome in each cell (partial ...
  2. ... 1p or 1q), a missing segment of the short or long arm of the chromosome in each cell (partial ...
  3. ... chromosome 5 include an extra segment of the short (p) or long (q) arm of the chromosome in each cell ( ...
  4. ... has two long (q) arms instead of one long arm and one short (p) arm. As a result, the chromosome has ...
  5. ... is a deletion of a piece of the short (p) arm and a duplication of a piece of the long (q) arm. This chromosome abnormality is written rec( ... by a deletion of genetic material on the long (q) arm of chromosome 8. ... joint malformations; distinctive facial features; intellectual disability; ...
  6. ... by the deletion of a segment of the short (p) arm of chromosome 11 at a position designated 11p11.2. This condition is also known as proximal 11p deletion syndrome. The characteristic features of Potocki-Shaffer syndrome include enlarged openings in the two bones that make up much of the top and ...
  7. ... characterized by the premature fusion of certain skull bones (craniosynostosis), which prevents the skull from growing normally and affects the shape of the head and face. The chromosomal changes involve a region of the short (p) arm of chromosome 7 that contains the ...
  8. ... one gene called SHOX that is important for bone development and growth. The SHOX gene is located in the pseudoautosomal regions of the sex chromosomes. Having only one copy of this gene likely causes short stature and skeletal abnormalities seen in individuals with ...
  9. ... of genetic material near the end of the long (q) arm of chromosome 2, at a location ... short fingers and toes (brachydactyly).Researchers are working to ...
  10. ... dystrophy is caused by genetic changes in the long (q) arm of chromosome 4. This condition is ... 3,300 DNA base pairs (3.3 kb) long. The entire D4Z4 region is normally hypermethylated, which ...