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Chromosome 5, Trisomy 5p

Abstract

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NORD is very grateful to Sheila Dobin, PhD, Section Chief, Cytogenetics, PhD Medical Geneticist, Medical Genetics, Scott and White Hospital, Texas A&M University Health Science Center, and Kendra Krahenbuhl, MSIV, for assistance in the preparation of this report.

Synonyms of Chromosome 5, Trisomy 5p

  • chromosome 5, trisomy 5p, complete (5p11-ter), included
  • chromosome 5, trisomy 5p, partial, included
  • dup(5p) syndrome
  • duplication 5p syndrome
  • trisomy 5p

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Trisomy 5p is a rare chromosomal disorder in which all or a portion of the short arm (p) of chromosome 5 (5p) appears three times (trisomy) rather than twice in cells of the body. Often the duplicated portion of 5p (trisomy) is due to a complex rearrangement involving other chromosomes. These individuals have a variable phenotype depending on which chromosome is involved, the size of the duplication and whether there is loss of material from the same or another chromosome. There are rare cases with an isolated duplication of 5p. These individuals have less variability. The variability that does appear is due to the size and location of the duplication. The individuals with only the duplication allow a better description of the symptoms (phenotype) and definition of a critical region for certain symptoms (cardiac abnormalities and seizures). Many affected infants and children have abnormalities that include low muscle tone (hypotonia); an unusually large head (macrocephaly) and additional abnormalities of the head and facial (craniofacial) area; long, slender fingers (arachnodactyly); delays in the acquisition of skills requiring the coordination of mental and physical activities (psychomotor retardation); and intellectual disability. Some affected individuals may have heart defects and seizures. Not all individuals with trisomy 5p will have all of the symptoms of the disorder.

Chromosome 5, Trisomy 5p Resources

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